Cell Engineering Division -CELL BANK-

＊ When you want to use some Disease-specific iPS cells, please e-mail to the following address.
＊ In relation to the information that are not described below, please e-mail to the following address.

Contact us : cellips.brcriken.jp

Blue letter cells are available. You obtain the information by clicking the blue letter.
*iPS cells created using the Sendai virus vector are now available

*Terms:
In relation to all iPS cell lines, approval of institutional review board and/or institutional ethical committee regarding the research using iPS cells is necessary.
In relation to all iPS cell lines, commercial use is prohibited.
In relation to the cell lines marked with ◎, (1) the recipient does not need to obtain an approval from the depositor, (2) there is no need of collaboration with the depositor, and (3) for-profit entities can also utilize.

Update : 2020.11.27

Name of diseases	Patient No.	*Terms	Approval Form	HPS									References
Neuromuscular diseases
1. Spinal-Bulbar Muscular Atrophy (SBMA)
Spinal-Bulbar Muscular Atrophy (SBMA)	1	◎	Unnecessary	HPS0479	HPS0480	HPS0481							PMID: 23193063 24399248
	2	◎	Unnecessary	HPS0482	HPS0483	HPS0484							PMID: 23193063 24399248
	3	◎	Unnecessary	HPS0654	HPS0655	HPS0656	HPS0657	HPS0658	HPS0659
2. Amyotrophic lateral sclerosis (ALS)
Amyotrophic lateral sclerosis (ALS)	1			HPS0059
	2			HPS0247
	3			HPS0248
	4			HPS0249	HPS1721	HPS1722
	5			HPS0250
	6			HPS0251	HPS1719
	7			HPS0252	HPS1720
	8			HPS0253
	9			HPS0419	HPS0420	HPS0421
	10	◎	Unnecessary	HPS0473	HPS0474	HPS0475							PMID: 23193063 24399248
	11	◎	Unnecessary	HPS0476	HPS0477	HPS0478							PMID: 23193063 24399248
	12	◎	Unnecessary	HPS0485	HPS0486	HPS0487							PMID: 23193063 24399248
	13	◎	Unnecessary	HPS0558	HPS0559	HPS0560	HPS0561	HPS0562	HPS0563
	14	◎	Unnecessary	HPS0564	HPS0565	HPS0566	HPS0567	HPS0568	HPS0569
	15	◎	Unnecessary	HPS0576	HPS0577	HPS0578	HPS0579	HPS0580	HPS0581
	16	◎	Unnecessary	HPS0612	HPS0613	HPS0614	HPS0615	HPS0616	HPS0617
	17	◎	Unnecessary	HPS0618	HPS0619	HPS0620	HPS0621	HPS0622	HPS0623
	18	◎	Unnecessary	HPS0624	HPS0625	HPS0626	HPS0627	HPS0628	HPS0629
	19	◎	Unnecessary	HPS0630	HPS0631	HPS0632	HPS0633	HPS0634	HPS0635
	20	◎	Unnecessary	HPS0636	HPS0637	HPS0638	HPS0639	HPS0640	HPS0641
	21	◎	Unnecessary	HPS0642	HPS0643	HPS0644	HPS0645	HPS0646	HPS0647
	22	◎	Unnecessary	HPS0648	HPS0649	HPS0650	HPS0651	HPS0652	HPS0653
	23	◎	Unnecessary	HPS0724	HPS0725	HPS0726	HPS0727	HPS0728	HPS0729
	24	◎	Unnecessary	HPS0730	HPS0731	HPS0732	HPS0733	HPS0734	HPS0735
	25	◎	Unnecessary	HPS0736	HPS0737	HPS0738	HPS0739	HPS0740	HPS0741
	26	◎	Unnecessary	HPS0742	HPS0743	HPS0744	HPS0745	HPS0746	HPS0747
	27	◎	Unnecessary	HPS0748	HPS0749	HPS0750	HPS0751	HPS0752	HPS0753
	28	◎	Unnecessary	HPS0754	HPS0755	HPS0756	HPS0757	HPS0758	HPS0759
	29	◎	Unnecessary	HPS0760	HPS0761	HPS0762	HPS0763	HPS0764	HPS0765
	30	◎	Unnecessary	HPS0766	HPS0767	HPS0768	HPS0769	HPS0770	HPS0771
	31	◎	Unnecessary	HPS0782	HPS0783	HPS0784	HPS0785	HPS0786	HPS0787
	32	◎	Unnecessary	HPS0788	HPS0789	HPS0790	HPS0791	HPS0792	HPS0793
	33	◎	Unnecessary	HPS0794	HPS0795	HPS0796	HPS0797	HPS0798	HPS0799
	34	◎	Unnecessary	HPS0824	HPS0825	HPS0826	HPS0827	HPS0828	HPS0829
	35	◎	Unnecessary	HPS0860	HPS0861	HPS0862	HPS0863	HPS0864	HPS0865
	36	◎	Unnecessary	HPS0890	HPS0891	HPS0892	HPS0893	HPS0894	HPS0895
	37	◎	Unnecessary	HPS0896	HPS0897	HPS0898	HPS0899	HPS0900	HPS0901
	38	◎	Unnecessary	HPS0902	HPS0903	HPS0904	HPS0905	HPS0906	HPS0907
	39	◎	Unnecessary	HPS0908	HPS0909	HPS0910	HPS0911	HPS0912	HPS0913
	40	◎	Unnecessary	HPS0914	HPS0915	HPS0916	HPS0917	HPS0918	HPS0919
	41	◎	Unnecessary	HPS0920	HPS0921	HPS0922	HPS0923	HPS0924	HPS0925
	42	◎	Unnecessary	HPS0926	HPS0927	HPS0928	HPS0929	HPS0930	HPS0931
	43			HPS1055
	44			HPS1056
	45			HPS1723	HPS1724
	46			HPS1818
	47			HPS1819	HPS1820
	48			HPS1821
	49			HPS1822	HPS1823
	50			HPS1824	HPS1825
	51			HPS1826	HPS1827
	52			HPS1828	HPS1829
	53			HPS1830
	54			HPS1831	HPS1832	HPS1833	HPS1834
	55			HPS1835
	56			HPS1891
	57			HPS3818
	58			HPS3821	HPS3822	HPS3823
	59			HPS3824
	60			HPS3825
Amyotrophic lateral sclerosis (ALS), TDP-43 mutations	1			HPS0290	HPS0291	HPS0327							PMID: 22855461
	2			HPS0292	HPS0293	HPS0294	HPS1717						PMID: 22855461 28539470
Amyotrophic lateral sclerosis (ALS), familia amyotrophic lateral sclerosis (FALS)	1			HPS0140*	HPS0141*	HPS0142*
Amyotrophic lateral sclerosis (ALS), bulbar, with UMN	1			HPS0146*	HPS0147*	HPS0148*
Amyotrophic lateral sclerosis (ALS), classical, with UMN	1			HPS0129*	HPS0130*
Amyotrophic lateral sclerosis (ALS), pseudo-polyneuritic, w/o UMN	1			HPS0134*	HPS0136*
Amyotrophic lateral sclerosis (ALS) / Parkinsonism-dementia	1	◎	Unnecessary	HPS0878	HPS0879	HPS0880	HPS0881	HPS0882	HPS0883
Muro disease (Kii ALS/PDC)	1		Unnecessary	HPS1742
	2		Unnecessary	HPS1780
	3		Unnecessary	HPS1781
3. Spinal muscular atrophy
Spinal muscular atrophy, SMA Type I	1			HPS0158	HPS0159								PMID: 25801509
Spinal muscular atrophy, SMA Type II	1	◎		HPS1391	HPS1392	HPS1393	HPS1394	HPS1395	HPS1396
Spinal muscular atrophy	1	◎	Unnecessary	HPS0932	HPS0933	HPS0934	HPS0935	HPS0936	HPS0937
	2			HPS3871	HPS3872
4. Primary lateral sclerosis (PLS)
Primary lateral sclerosis (PLS)	1			HPS0414	HPS0415
	2			HPS0417	HPS0418
Primary lateral sclerosis (PLS), unknown genetic etiology	1	◎	Unnecessary	HPS2906	HPS2907	HPS2908	HPS2909	HPS2910	HPS2911
5. Progressive supranuclea palsy (PSP)
Progressive supranuclea palsy (PSP)	1	◎	Unnecessary	HPS2714	HPS2715	HPS2716	HPS2717	HPS2718	HPS2719
6. Parkinson’s disease (PD）
Parkinson’s disease (PD)	1			HPS0264
	2			HPS0800	HPS0801	HPS0802	HPS0803	HPS0804	HPS0805
	3	◎	Unnecessary	HPS0491	HPS0492	HPS0493							PMID: 23193063 24399248
	4			HPS0510
		◎	Unnecessary	HPS0842	HPS0843	HPS0844	HPS0845	HPS0846	HPS0847
	5	◎	Unnecessary	HPS0830	HPS0831	HPS0832	HPS0833	HPS0834	HPS0835
	6	◎	Unnecessary	HPS0848	HPS0849	HPS0850	HPS0851	HPS0852	HPS0853
Parkinson’s disease (PD), Familial type, PARK2	1			HPS0097	HPS0098	HPS0099							PMID: 23039195
	2			HPS0304	HPS0305								PMID: 23039195
7. Corticobasal degeneration (CBD）
Corticobasal degeneration (CBD）	1	◎	Unnecessary	HPS2401	HPS2402	HPS2403	HPS2404	HPS2405	HPS2406
8. Huntington’s disease
Huntington’s disease	1			HPS0263
Huntington’s disease, mutation in IT15	2	◎	Unnecessary	HPS2377	HPS2378	HPS2379	HPS2380	HPS2381	HPS2382
9. Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease	1			HPS0426	HPS0427	HPS0428
	2			HPS0429	HPS0430	HPS0431
	3			HPS0433	HPS0434
	4			HPS0507
	5			HPS0508
	6	◎	Unnecessary	HPS0552	HPS0553	HPS0554	HPS0555	HPS0556	HPS0557	HPS1047
	7			HPS1048
	8			HPS1049	HPS1718
	9			HPS1050
	10			HPS1814
	11			HPS1815
10. Myasthenia Gravis (MG)
Myasthenia Gravis (MG), s,positiveibranUAChRantibody	1	◎	Unnecessary	HPS2220	HPS2221	HPS2222	HPS2223	HPS2224	HPS2225
11. Congenital myasthenic syndrome
Congenital myasthenic syndrome	1	◎	Unnecessary	HPS0983	HPS0984	HPS0985	HPS0986	HPS0987	HPS0988	HPS0989	HPS0990
	2	◎	Unnecessary	HPS1066	HPS1067	HPS1068	HPS1069	HPS1070
	3	◎	Unnecessary	HPS1845	HPS1846
	4	◎	Unnecessary	HPS1850
	5	◎	Unnecessary	HPS1851	HPS1852
	6	◎	Unnecessary	HPS1855	HPS3523	HPS3524
Congenital myasthenic syndrome mutation in GFPT1	1	◎	Unnecessary	HPS2894	HPS2895	HPS2896	HPS2897	HPS2898	HPS2899
12. Multiple sclerosis (MS) / Neuromyelitis Optica Spectrum Disorders (NMOSD)
Multiple sclerosis (MS) / Neuromyelitis Optica Spectrum Disorders (NMOSD), Neuromyelitis Optica	1	◎	Unnecessary	HPS2912	HPS2913	HPS2914	HPS2915	HPS2916	HPS2917
Multiple sclerosis (MS) / Neuromyelitis Optica, relapsing-remitting MS	1	◎	Unnecessary	HPS1454	HPS1455	HPS1456	HPS1457	HPS1458	HPS1459
	2	◎	Unnecessary	HPS3137	HPS3138	HPS3139	HPS3140	HPS3141	HPS3142
Multiple sclerosis (MS) / Neuromyelitis Optica, secondary progressive multiple sclerosis	1	◎	Unnecessary	HPS1526	HPS1527	HPS1528	HPS1529	HPS1530	HPS1531
13. Chronic inflammatory demyelinating polyneuropathy (CIDP) / multifocal motor neuropathy (MMN)
Chronic inflammatory demyelinating polyneuropathy (CIDP) / multifocal motor neuropathy (MMN), mortor dominant	1	◎	Unnecessary	HPS1544	HPS1545	HPS1546	HPS1547	HPS1548	HPS1549
Chronic inflammatory demyelinating polyneuropathy (CIDP)	1	◎	Unnecessary	HPS2174	HPS2175	HPS2176	HPS2177	HPS2178	HPS2179
14. Inclusion body myositis
Inclusion body myositis	1			HPS0183*
	2			HPS0351	HPS0352	HPS0353
	3			HPS3987	HPS3988	HPS3989	HPS3990	HPS3991	HPS3992
15. Crow‐Fukase syndrome
Crow‐Fukase syndrome	1	◎	Unnecessary	HPS1621	HPS1622	HPS1623	HPS1624	HPS1625	HPS1626
Crow‐Fukase syndrome, possible CFS	2	◎	Unnecessary	HPS2347	HPS2348	HPS2349	HPS2350	HPS2351	HPS2352
16. Multiple system atrophy (MSA)
Multiple system atrophy (MSA)	1	◎	Unnecessary	HPS0772	HPS0773	HPS0774	HPS0775
	2	◎	Unnecessary	HPS0818	HPS0819	HPS0820	HPS0821	HPS0822	HPS0823
	3		Unnecessary	HPS1737
	4		Unnecessary	HPS1738
	5		Unnecessary	HPS1739
	6	◎	Unnecessary	HPS2214	HPS2215	HPS2216	HPS2217	HPS2218	HPS2219
17. Spinocerebellar Degeneration
Spinocerebellar Degeneration	1			HPS0422	HPS0424								PMID: 28918022
	2			HPS0425
	3	◎	Unnecessary	HPS0464	HPS0465	HPS0466							PMID: 23193063 24399248
	4	◎	Unnecessary	HPS0467	HPS0468	HPS0469							PMID: 23193063 24399248
	5	◎	Unnecessary	HPS0570	HPS0571	HPS0572	HPS0573	HPS0574	HPS0575
	6	◎	Unnecessary	HPS0582	HPS0583	HPS0584	HPS0585	HPS0586	HPS0587
	7	◎	Unnecessary	HPS0588	HPS0589	HPS0590	HPS0591	HPS0592	HPS0593
	8	◎	Unnecessary	HPS0594	HPS0595	HPS0596	HPS0597	HPS0598	HPS0599
	9	◎	Unnecessary	HPS0600	HPS0601	HPS0602	HPS0603	HPS0604	HPS0605
	10	◎	Unnecessary	HPS0606	HPS0607	HPS0608	HPS0609	HPS0610	HPS0611
	11	◎	Unnecessary	HPS0776	HPS0777	HPS0778	HPS0779	HPS0780	HPS0781
	12	◎	Unnecessary	HPS0806	HPS0807	HPS0808	HPS0809	HPS0810	HPS0811
	13	◎	Unnecessary	HPS0836	HPS0837	HPS0838	HPS0839	HPS0840	HPS0841
	14	◎	Unnecessary	HPS0866	HPS0867	HPS0868	HPS0869	HPS0870	HPS0871
				HPS1034									PMID: 28918022
	15	◎	Unnecessary	HPS0872	HPS0873	HPS0874	HPS0875	HPS0876	HPS0877
				HPS1035
	16			HPS1725
	17			HPS1726	HPS1727
Spinocerebellar Degeneration, sporadic	1	◎	Unnecessary	HPS2226	HPS2227	HPS2228	HPS2229	HPS2230	HPS2231
Spinocerebellar ataxia type 1	1		Unnecessary	HPS1740
	2		Unnecessary	HPS1741
Spinocerebellar Degeneration	1			HPS1898	HPS1899
Spinocerebellar Degeneration	1			HPS1074	HPS1772
	2			HPS1773
	3			HPS1774	HPS1775
	4			HPS1890
	5			HPS1892	HPS1893
	6			HPS1894	HPS1895
	7			HPS1896	HPS1897
Spinocerebellar Degeneration	1			HPS1887
	2			HPS1888	HPS1889
18. Moyamoya disease
Moyamoya disease	1			HPS0215*	HPS0216*	HPS0217*
	2	◎	Unnecessary	HPS2066	HPS2067	HPS2068	HPS2069	HPS2070	HPS2071
	3	◎	Unnecessary	HPS3012	HPS3013	HPS3014	HPS3015	HPS3016	HPS3017
Moyamoya disease, bilateral type	1	◎	Unnecessary	HPS1667	HPS1668	HPS1669	HPS1670	HPS1671	HPS1672
19. Subacute sclerosing panencephalitis (SSPE)
Subacute sclerosing panencephalitis (SSPE)	1	◎	Unnecessary	HPS1638	HPS1639	HPS1640	HPS1641	HPS1642	HPS1643
	2	◎	Unnecessary	HPS2430	HPS2431	HPS2432	HPS2433	HPS2434	HPS2435
20. Progressive multifocal leukoencephalopathy (PML)
Progressive multifocal leukoencephalopathy (PML)	1	◎	Unnecessary	HPS2280	HPS2281	HPS2282	HPS2283	HPS2284
21. Fahr disease
Fahr disease	1			HPS1036	HPS1705
	2			HPS1037	HPS1708	HPS1709
	3			HPS1038	HPS1710	HPS1711
	4			HPS1053
	5			HPS1054	HPS3842	HPS3843
	6			HPS1706	HPS1707
	7			HPS3844	HPS3845/td>	HPS3846
22. Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy	1		Unnecessary	HPS1849
Ullrich congenital muscular dystrophy	1			HPS3862	HPS3863	HPS3864
23. Distal Myopathy
Distal Myopathy	1	◎	Unnecessary	HPS2971	HPS2972	HPS2973	HPS2974	HPS2975	HPS2976
Distal Myopathy, DMRV / GNE myopathy	1	◎	Unnecessary	HPS1436	HPS1437	HPS1438	HPS1439	HPS1440	HPS1441
	2	◎	Unnecessary	HPS2126	HPS2127	HPS2128	HPS2129	HPS2130	HPS2131
Miyoshi myopathy	1			HPS0390	HPS0391	HPS0392
	2			HPS0397	HPS0398	HPS0399
	3			HPS0408	HPS0409	HPS0410
	4			HPS1029	HPS1030	HPS1031
Miyoshi myopathy	1		HPS0961	HPS0962	HPS0963	HPS0964	HPS0965	HPS0966
	2			HPS0973*	HPS0974*	HPS0975*	HPS097*	HPS0977*	HPS0978*
24. Bethlem myopathy
Bethlem myopathy	1			HPS1017	HPS1018	HPS1019
	2	◎	Unnecessary	HPS1847	HPS1848
	3	◎	Unnecessary	HPS3209	HPS3210	HPS3211	HPS3212	HPS3213	HPS3214
25. Danon disease
Danon disease	1			HPS1805
	2			HPS3664
26. Schwartz-Jampel syndrome (SJS)
Schwartz-Jampel syndrome (SJS)	1			HPS1023	HPS1024	HPS1025
27. Congenital myopathy
Congenital fiber type disproportion disease	1			HPS0143*	HPS0144*	HPS0145*
Myotubular myopathy	1			HPS1020	HPS1021	HPS1022
	2			HPS3865	HPS3866	HPS3867
Congenital myopathy, mutation in MTM11	1	◎	Unnecessary	HPS2882	HPS2883	HPS2884	HPS2885	HPS2886	HPS2887
28. Muscular dystrophy
Muscular dystrophy, Duchenne type	1			HPS0164*
	2			HPS0169*	HPS0171*
	3			HPS0312	HPS0313	HPS0314	HPS0315	HPS0316
	4			HPS1026	HPS1027	HPS1028
	5			HPS3944
	6			HPS3945	HPS3946	HPS3947
	7			HPS3959	HPS3960
Muscular dystrophy, Duchenne type, deletion of exon 44, dystrophin gene	1			HPS0383									PMID: 25434822 PMID: 30171543 PMID: 33798449
Correction of the dystrophin gene				HPS0384	HPS0385	HPS0386	HPS0387						PMID: 25434822 PMID: 33798449
Muscular dystrophy, Duchenne type (manifesting carrier)	1			HPS0317	HPS0318	HPS0319	HPS0320	HPS0321	HPS0322*	HPS0323*	HPS0324*	HPS0325*
Muscular dystrophy, Becker type	1			HPS0233*	HPS0234*
Muscular dystrophy, Limb-girdle type	1			HPS0200*
Muscular dystrophy, Miyoshi type	1			HPS0133*
Muscular dystrophy, Myotonic Dystrophy	1			HPS0540	HPS0541	HPS0542
	2			HPS1032
	3			HPS1033
	4			HPS1051	HPS1703	HPS1704
	5			HPS1052
Muscular dystrophy, Myotonic Dystrophy, type 1	1			HPS0393	HPS0394
	2			HPS0395	HPS0396
Muscular channelopathy	1			HPS0967	HPS0968	HPS0969	HPS0970	HPS0971	HPS0972
	2			HPS0979	HPS0980	HPS0981
	3			HPS0991	HPS0992	HPS0993	HPS0994	HPS0995	HPS0996	HPS0997
	4			HPS1058	HPS1059	HPS1060	HPS1061
Muscular dystrophy, duplication of exons 3-7 of DMD gene	1	◎	Unnecessary	HPS1367	HPS1368	HPS1369	HPS1370	HPS1371	HPS1372
Muscular dystrophy, deletion of exons 47-52 of DMD gene	1	◎	Unnecessary	HPS1337	HPS1338	HPS1339	HPS1340	HPS1341	HPS1342
	2	◎	Unnecessary	HPS1349	HPS1350	HPS1351	HPS1352	HPS1353	HPS1354
Muscular dystrophy, deletion of exons 49-50 of DMD gene	1	◎	Unnecessary	HPS1343	HPS1344	HPS1345	HPS1346	HPS1347	HPS1348
Muscular dystrophy, deletion of exons 49-52 of DMD gene	1	◎	Unnecessary	HPS1355	HPS1356	HPS1357	HPS1358	HPS1359	HPS1360
Muscular dystrophy, congenital, Merosin-deficient 1A	1			HPS3859	HPS3860	HPS3861
Facio-scapulo-humeral muscular dystrophy, type2	1			HPS3941	HPS3942	HPS3943
	2			HPS3962	HPS3963	HPS3964
29. Periodic paralysis
Periodic paralysis	1	◎	Unnecessary	HPS1062	HPS1063	HPS1064	HPS1065
30. Syringomyelia/span>
Syringomyelia	1	◎	Unnecessary	HPS2285	HPS2286	HPS2287	HPS2288	HPS2289
31. Isaacs syndrome
Isaacs syndrome	1	◎	Unnecessary	HPS2238	HPS2239	HPS2240	HPS2241	HPS2242	HPS2243
32. Hereditary dystonia
Hereditary dystonia 遺伝性ジストニア	1			HPS1039	HPS1712
	2			HPS1040	HPS1713	HPS1714
	3			HPS1816	HPS1817
	4	◎	Unnecessary	HPS1942	HPS1943	HPS1944	HPS1945	HPS1946	HPS1947
33. Neuroferritinopathy
Neuroferritinopathy	1		Unnecessary	HPS1785
34. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
CADASIL（cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy）	1			HPS3847
	2			HPS3848
	3			HPS3849
	4			HPS3850
	5			HPS3851
	6			HPS3852
	7			HPS3853
35. Perry syndrome
Perry syndrome	1			HPS1041
		◎	Unnecessary	HPS1715	HPS1716
36. Frontotemporal lobar degeneration (FTLD)
Frontotemporal lobar degeneration (FTLD),Semantic Dementia	1	◎	Unnecessary	HPS1568	HPS1569	HPS1570	HPS1571	HPS1572
	2	◎	Unnecessary	HPS1906	HPS1907	HPS1908	HPS1909	HPS1910	HPS1911
Frontotemporal dementia (FTD)	1	◎	Unnecessary	HPS0470	HPS0471	HPS0472							PMID: 23193063 24399248
37. Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD)
Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD)	1	◎	Unnecessary	HPS1924	HPS1925	HPS1926	HPS1927	HPS1928	HPS1929
38. Congenital insensitivity to pain with anhidrosis
Congenital insensitivity to pain with anhidrosis	1	◎	Unnecessary	HPS1076	HPS1077
Congenital insensitivity to pain with anhidrosis (CIPA), unknown genetic etiology	1	◎	Unnecessary	HPS2012	HPS2013	HPS2014	HPS2015	HPS2016	HPS2017
39. Alexander disease
Alexander disease type 2（GFAP mutation）	1	◎	Unnecessary	HPS1442	HPS1443	HPS1444	HPS1445	HPS1446	HPS1447
Alexander disease, type 2	1	◎	Unnecessary	HPS2341	HPS2342	HPS2343	HPS2344	HPS2345	HPS2346
Alexander disease, type 3	1	◎	Unnecessary	HPS2792	HPS2793	HPS2794	HPS2795	HPS2796	HPS2797
Alexander disease	1	◎	Unnecessary	HPS2786	HPS2787	HPS2788	HPS2789	HPS2790	HPS2791
	2			HPS3529
40. Aicardi syndrome
Aicardi syndrome	1	◎	Unnecessary	HPS2780	HPS2781	HPS2782	HPS2783	HPS2784	HPS2785
41. Hemimegalencephaly
Hemimegalencephaly	1	◎	Unnecessary	HPS2720	HPS2721	HPS2722	HPS2723	HPS2724	HPS2725
42. Focal cortical dysplasia (FCD)
Focal cortical dysplasia (FCD)	1	◎	Unnecessary	HPS1591	HPS1592	HPS1593	HPS1594	HPS1595	HPS1596
Focal cortical dysplasia (FCD), type 2a	1	◎	Unnecessary	HPS2442	HPS2443	HPS2444	HPS2445	HPS2446	HPS2447
43.Neuronal migration disorder
Neuronal migration disorder	1	◎	Unnecessary	HPS1615	HPS1616	HPS1617	HPS1618	HPS1619	HPS1620
Neuronal migration disorder, polymicrogyria / unknown genetic etiology	1	◎	Unnecessary	HPS2156	HPS2157	HPS2158	HPS2159	HPS2160	HPS2161
Neuronal migration disorder, mutation in PIK3R2	1	◎	Unnecessary	HPS2936	HPS2937	HPS2938	HPS2939	HPS2940	HPS2941
44. Dravet syndrom
Dravet syndrome, heterozygous mutation of SCN1A	1	◎	Unnecessary	HPS1460	HPS1461	HPS1462	HPS1463	HPS1464	HPS1465
Dravet syndrome, mutation of SCN1A	1	◎	Unnecessary	HPS2096	HPS2097	HPS2098	HPS2099	HPS2100	HPS2101
	2	◎	Unnecessary	HPS2834	HPS2835	HPS2836	HPS2837	HPS2838	HPS2839
45. Mesial temporal lobe epilepsy with hippocampal sclerosis
Mesial temporal lobe epilepsy with hippocampal sclerosis	1	◎	Unnecessary	HPS1609	HPS1610	HPS1611	HPS1612	HPS1613	HPS1614
	2	◎	Unnecessary	HPS2436	HPS2437	HPS2438	HPS2439	HPS2440	HPS2441
46. Epilepsy with myoclonic absence (EMA)
Epilepsy with myoclonic absence (EMA)	1	◎	Unnecessary	HPS1514	HPS1515	HPS1516	HPS1517	HPS1518	HPS1519
	2	◎	Unnecessary	HPS2319	HPS2320	HPS2321	HPS2322	HPS2323	HPS2324
47. Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-astatic seizures	1	◎	Unnecessary	HPS1930	HPS1931	HPS1932	HPS1933	HPS1934	HPS1935
48. Lennox-Gastaut syndrome (LGS)
Lennox-Gastaut syndrome (LGS)	1	◎	Unnecessary	HPS1603	HPS1604	HPS1605	HPS1606	HPS1607	HPS1608
Lennox-Gastaut syndrome (LGS), inverted duplication of chromosome 15	1	◎	Unnecessary	HPS2120	HPS2121	HPS2122	HPS2123	HPS2124	HPS2125
49. West syndrome
West syndrome	1	◎	Unnecessary	HPS3224	HPS3225	HPS3226	HPS3227	HPS3228	HPS3229
50. Ohtahara syndrome
Ohtahara syndrome, mutation of STXBP1	1	◎	Unnecessary	HPS3179	HPS3180	HPS3181	HPS3182	HPS3183	HPS3184
51. Hemiconvulsion-hemiplegia-epilepsy syndrome
Hemiconvulsion-hemiplegia-epilepsy syndrome, unknown genetic etiology	1	◎	Unnecessary	HPS2048	HPS2049	HPS2050	HPS2051	HPS2052	HPS2053
	2	◎	Unnecessary	HPS2460	HPS2461	HPS2462	HPS2463	HPS2464	HPS2465
52.Ring chromosome 20 syndrome
Ring chromosome 20 syndrome	1	◎	Unnecessary	HPS1421	HPS1422	HPS1423	HPS1424	HPS1425	HPS1426
	2	◎	Unnecessary	HPS2138	HPS2139	HPS2140	HPS2141	HPS2142	HPS2143
53.Rasmussen encephalitis
Rasmussen encephalitis	1	◎	Unnecessary	HPS1585	HPS1586	HPS1587	HPS1588	HPS1589	HPS1590
Rasmussen encephalitis, Part A	1	◎	Unnecessary	HPS2180	HPS2181	HPS2182	HPS2183	HPS2184	HPS2185
54. PCDH19 epilepsy
PCDH19 epilepsy, PCDH19 mutation	1	◎	Unnecessary	HPS1655	HPS1656	HPS1657	HPS1658	HPS1659	HPS1660
	2	◎	Unnecessary	HPS2313	HPS2314	HPS2315	HPS2316	HPS2317	HPS2318
55. Epilepsy with continuous spikes and waves during slow sleep
Epilepsy with continuous spikes and waves during slow sleep, unknown genetic etiology	1	◎	Unnecessary	HPS1644	HPS1645	HPS1646	HPS1647	HPS1648	HPS1649
	2	◎	Unnecessary	HPS2331	HPS2332	HPS2333	HPS2334	HPS2335	HPS2336
	3	◎	Unnecessary	HPS3326	HPS3327	HPS3328	HPS3329	HPS3330	HPS3331
56.Landau―Kleffner syndrome
Landau―Kleffner syndrome, unknown genetic etiology	1	◎	Unnecessary	HPS2732	HPS2733	HPS2734	HPS2735	HPS2736	HPS2737
57. Rett syndrome
Rett syndrome	1	◎	Unnecessary	HPS1156	HPS1157	HPS1158	HPS1159	HPS1160	HPS1161
	2	◎	Unnecessary	HPS3084	HPS3085	HPS3086	HPS3087	HPS3088	HPS3089
	3	◎	Unnecessary	HPS3090	HPS3091	HPS3092	HPS3093	HPS3094	HPS3095
Rett syndrome,Shank3 gene mutation (c.3100del)	1	◎	Unnecessary	HPS3036	HPS3037	HPS3038	HPS3039	HPS3040	HPS3041
Rett syndrome, MECP2 gene mutation (S134C)	1	◎	Unnecessary	HPS3042	HPS3043	HPS3044	HPS3045	HPS3046	HPS3047
Rett syndrome, MECP2 gene mutation (R306H)	1	◎	Unnecessary	HPS3048	HPS3049	HPS3050	HPS3051	HPS3052	HPS3053
58.Sturge-Weber syndrome
Sturge-Weber syndrome, unknown genetic etiology	1	◎	Unnecessary	HPS1661	HPS1662	HPS1663	HPS1664	HPS1665	HPS1666
59.Tuberous sclerosis complex （TSC)
Tuberous sclerosis complex （TSC), unknown genetic etiology	1	◎	Unnecessary	HPS2395	HPS2396	HPS2397	HPS2398	HPS2399	HPS2400
60. Xeroderma pigmentosum
Xeroderma pigmentosum (A)	1			HPS1750*
Xeroderma pigmentosum (C)	1		Unnecessary	HPS1000*	HPS1001*	HPS1002*	HPS1003*	HPS1004*
	2			HPS1751*
Xeroderma pigmentosum, mutation in XPA	1	◎	Unnecessary	HPS2000	HPS2001	HPS2002	HPS2003	HPS2004	HPS2005
Xeroderma pigmentosum	1			HPS3652	HPS3653	HPS3654	HPS3655	HPS3656
62.Angelman syndrome
Angelman syndrome, chromosome 15 partial deletion	1	◎	Unnecessary	HPS1597	HPS1598	HPS1599	HPS1600	HPS1601	HPS1602
Angelman syndrome, deletion of 15q11.2-15q11.3	1	◎	Unnecessary	HPS2084	HPS2085	HPS2086	HPS2087	HPS2088	HPS2089
Angelman syndrome	1		Unnecessary	HPS1734
	2		Unnecessary	HPS1735
	3		Unnecessary	HPS1736
	4		Unnecessary	HPS1782
	5		Unnecessary	HPS1783
	6		Unnecessary	HPS1784
	7		Unnecessary	HPS1786
Angelman syndrome, unknown genetic etiology	1	◎	Unnecessary	HPS2798	HPS2799	HPS2800	HPS2801	HPS2802	HPS2803
Angelman syndrome, Epilepsy	1			HPS3660									PMID: 30605843
62. Glycosylphosphatidylinositol(GPI) anchor deficiency
Glycosylphosphatidylinositol(GPI) anchor deficiency	1	◎	Unnecessary	HPS3102	HPS3103	HPS3104	HPS3105	HPS3106	HPS3107
	2	◎	Unnecessary	HPS3108	HPS3109	HPS3110	HPS3111	HPS3112
Glycosylphosphatidylinositol(GPI) anchor deficiency	1	◎	Unnecessary	HPS2989	HPS2990	HPS2991	HPS2992	HPS2993	HPS2994