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List of diseases

*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

Update : 2016.10.11

Name of diseases Patient No HPS Reference
1. Spinal-Bulbar Muscular Atrophy (SBMA)   
Spinal-Bulbar Muscular Atrophy (SBMA) 1 HPS0350
2 HPS0479 HPS0480 HPS0481 PMID: 23193063
24399248
3 HPS0482 HPS0483 HPS0484 PMID: 23193063
24399248
2. Amyotrophic lateral sclerosis (ALS)  
Amyotrophic lateral sclerosis (ALS) 1 HPS0059
2 HPS0247
3 HPS0248
4 HPS0249
5 HPS0250
6 HPS0251
7 HPS0252
8 HPS0253
9 HPS0327 HPS0290 HPS0291 PMID: 22855461
10 HPS0292 HPS0293 HPS0294 PMID: 22855461
11 HPS0419 HPS0420 HPS0421
12 HPS0473 HPS0474 HPS0475 PMID: 23193063
24399248
13 HPS0476 HPS0477 HPS0478 PMID: 23193063
24399248
14 HPS0485 HPS0486 HPS0487 PMID: 23193063
24399248
Amyotrophic lateral sclerosis (ALS), familia amyotrophic lateral sclerosis (FALS) 1 HPS0140* HPS0141* HPS0142*
Amyotrophic lateral sclerosis (ALS), bulbar, with UMN (bulbar, with UMN) 1 HPS0146* HPS0147* HPS0148*
Amyotrophic lateral sclerosis (ALS), classical, with UMN (classical, with UMN) 1 HPS0128* HPS0129* HPS0130*
Amyotrophic lateral sclerosis (ALS), pseudo-polyneuritic, w/o UMN
(pseudo-polyneuritic, w/o UMN)
1 HPS0134* HPS0135* HPS0136*
3. Spinal muscular atrophy   
Spinal muscular atrophy, SMA Type I 1 HPS0235* HPS0236* HPS0237*
2 HPS0158 HPS0159
Spinal muscular atrophy, SMA type III (Kugelberg-Welander disease) 1 HPS0229* HPS0230* HPS0231*
2 HPS0115 HPS0116
4. Primary lateral sclerosis (PLS)   
Primary lateral sclerosis (PLS) 1 HPS0414 NEW  HPS0415 HPS0416
2 HPS0417 HPS0418
5. Parkinson’s disease (PD)
Parkinson’s disease (PD) 1 HPS0264
2 HPS0435 HPS0436
3 HPS0491 HPS0492 HPS0493 PMID: 23193063
24399248
4 HPS0509
5 HPS0510
Parkinson’s disease (PD), Familial type, PARK2 1 HPS0096 HPS0097 HPS0098 HPS0099
2 HPS0304 HPS0305
6. Huntington’s disease  
Huntington’s disease 1 HPS0263
7. Charcot-Marie-Tooth disease 
Charcot-Marie-Tooth disease 1 HPS0426 NEW  HPS0427 HPS0428
2 HPS0429 NEW  HPS0430 HPS0431
3 HPS0432 HPS0433 HPS0434
4 HPS0507 NEW 
5 HPS0508 NEW 
8. Congenital myasthenic syndromes   
Congenital myasthenic syndromes 1 HPS0982 HPS0983 HPS0984 HPS0985 HPS0986 HPS0987 HPS0988 HPS0989 HPS0990
2 HPS1066 HPS1067 HPS1068 HPS1069 HPS1070
9. Inclusion body myositis   
Inclusion body myositis 1 HPS0181* HPS0182* HPS0183*
2 HPS0351 HPS0352 HPS0353
10. Spinocerebellar Degeneration   
Spinocerebellar Degeneration 1 HPS0422 HPS0423 HPS0424
2 HPS0425
3 HPS0464 HPS0465 HPS0466 PMID: 23193063
24399248
4 HPS0467 HPS0468 HPS0469 PMID: 23193063
24399248
5 HPS1074
11. Lysosomal storage disease   
Metachromatic leukodystrophy (MLD) 1 HPS0238* HPS0239* HPS0240*
Tay-Sachs’ disease (RCB0697 GM2-1TKB) 1 HPS0149* HPS0150* HPS0151*
Niemann-Pick disease, variant biochemical phenotype C 1 HPS0488 HPS0489 HPS0490 PMID: 23193063
24399248
12. Mitochondrial encephalomyopathy  
Mitochondrial encephalomyopathy 1 HPS0069* HPS0070* HPS0071*
2 HPS0458 HPS0459 HPS0460 PMID: 23193063
24399248
3 HPS0461 HPS0462 HPS0463 PMID: 23193063
24399248
13. Moyamoya disease   
Moyamoya disease 1 HPS0215* HPS0216* HPS0217*
2 HPS0241* HPS0242* HPS0243*
14. Amyloid neuropathy 
Amyloid neuropathy, Familial type 1 HPS0224* HPS0225* HPS0226*
2 HPS0227* HPS0228*
15. Dermatomyositis (DM)  
Dermatomyositis (DM) 1 HPS0172* HPS0173* HPS0174*
16. Progressive systemic sclerosis (PSS)   
Progressive systemic sclerosis (PSS) 1 HPS0178* HPS0179* HPS0180*
2 HPS0184* HPS0185* HPS0186*
17. Sjögren’s syndrome   
Sjögren’s syndrome 1 HPS0437 HPS0438 HPS0439 PMID: 23193063
24399248
18. Primary Immunodeficiency Database   
Adenosine deaminase deficiency (ADA) 1 HPS0265 HPS0266 HPS0267 HPS0268 HPS0269
Chronic granulomatous disease (CGD), p47phox-deficiency 1 HPS0334* HPS0335* HPS0336*
X-linked Chronic granulomatous disease (X-CGD), gp91phox-deficiency) 1 HPS0337* HPS0338* HPS0339*
19. Hypopituitarism   
Hypopituitarism 1 HPS1073
20. Pulmonary hypertension  
Pulmonary hypertension 1 HPS0209* HPS0210* HPS0211*
21. Retinitis pigmentosa  
Retinitis pigmentosa 1 HPS0061
2 HPS0062 HPS0104 HPS0105
3 HPS0072 HPS0106 HPS0107
4 HPS0073
5 HPS0074
6 HPS0075
7 HPS0938
8 HPS1075
22. Cryopirin-associated periodic syndrome (CAPS)
Chronic infantile neurological cutaneous and articular syndrome (CINCA syndrome) 1 HPS0117 HPS0118 PMID: 22723549
2 HPS0119 HPS0120 PMID: 22723549
23. Congenital myopathy   
Congenital fiber type disproportion disease 1 HPS0143* HPS0144* HPS0145*
24. Muscular dystrophy   
Muscular dystrophy, Duchenne type 1 HPS0163* HPS0164* HPS0165*
2 HPS0166* HPS0167* HPS0168*
3 HPS0169* HPS0170* HPS0171*
4 HPS0312 HPS0313 HPS0314 HPS0315 HPS0316
5 HPS0383 HPS0384 HPS0385 HPS0386 HPS0387 PMID: 25434822
Muscular dystrophy, Duchenne type (manifesting carrier) 1 HPS0317 HPS0318 HPS0319 HPS0320 HPS0321
HPS0322* HPS0323* HPS0324* HPS0325*
Muscular dystrophy, Becker type 1 HPS0232* HPS0233* HPS0234*
Muscular dystrophy, Limb-girdle type 1 HPS0198* HPS0199* HPS0200*
Muscular dystrophy, Miyoshi type 1 HPS0131* HPS0132* HPS0133*
Muscular dystrophy, Myotonic Dystrophy 1 HPS0393 HPS0394
2 HPS0395 HPS0396
3 HPS0540 HPS0541 HPS0542
25. Periodic paralysis 
Periodic paralysis 1 HPS1062 HPS1063 HPS1064 HPS1065
26. Frontotemporal dementia 
Frontotemporal dementia 1 HPS0470 HPS0471 HPS0472 PMID: 23193063
24399248
27. Congenital hypomyelinating luekodystrophy   
Allan-Herndon syndrome 1 HPS0152* HPS0153* HPS0154*
Pelizaeus-Merzbacher disease 1 HPS0066* HPS0067* HPS0068*
28. Xeroderma pigmentosum 
Xeroderma pigmentosum (A) 1 HPS1750 NEW
Xeroderma pigmentosum (C) 1 HPS1000 HPS1001 HPS1002 HPS1003 HPS1004
2 HPS1751 NEW
29. Ehlers-Danlos syndrome   
Ehlers-Danlos syndrome, Kosho Type 1 HPS0212*
2 HPS0213*
3 HPS0214*
30. Wilson’s disease  
Wilson’s disease  
RCB0390 NCU-F3
RCB0391 NCU-F4
RCB0395 NCU-F8
1 HPS0049 HPS0050 HPS0051 HPS0052
2 HPS0053 HPS0054 HPS0055 HPS0056
3 HPS0045 HPS0046 HPS0047 HPS0048
31. Hypophosphatasia   
Hypophosphatasia, perinatal type 1 HPS0332
2 HPS0333
32. X-Linked α-Thalassemia, Mental Retardation Syndrome (ATR-X syndrome)
X-Linked α-Thalassemia, Mental Retardation Syndrome (ATR-X syndrome) 1 HPS0207* HPS0208*
2 HPS1007* HPS1008* HPS1009*
33. Werner syndrome  
Werner syndrome
(RCB0407 WS2TKB)
1 HPS0193 HPS0284 HPS0285 HPS0286 HPS0287 HPS0288
34. Cockayne’s syndrome   
Cockayne’s syndrome
(RCB0397 NCU-F10)
1 HPS0083* HPS0084* HPS0085*
35. Prader-Willi Syndrome  
Prader-Willi Syndrome
(RCB1560 PWS-Yamaguchi)
1 HPS0080* HPS0081* HPS0082*
36. Glycogen storage disease, type II (Pompe’s disease)   
Glycogen storage disease, type II (Pompe’s disease) 1 HPS0175* HPS0176* HPS0177*
37. Glycogen storage disease, Type 1b   
Glycogen storage disease, Type 1b 1 HPS0064* HPS0065*
38. Nakajo-Nishimura Syndrome   
Nakajo-Nishimura Syndrome 1 HPS0517
2 HPS0518
39. Fibrodysplasia ossificans progressiva (FOP)  
Fibrodysplasia ossificans progressiva (FOP) 1 HPS0376 HPS0377 PMID: 24321451
2 HPS0378 PMID: 24321451
40. Osteogenesis Imperfecta   
Osteogenesis Imperfecta 1 HPS0525 HPS0526 HPS0527 HPS0528
2 HPS0942 NEW HPS0943 NEW HPS0944 NEW
3 HPS0945 NEW HPS0946 NEW HPS0947 NEW HPS0948 NEW HPS0949 NEW
4 HPS0950 NEW HPS0951 NEW HPS0952 NEW
41.Achondroplasia  
Achondroplasia 1 HPS0388 HPS0389
2 HPS0522 HPS0523 HPS0524
3 HPS0529 HPS0530 HPS0531
4 HHPS0939 NEW HHPS0940 NEW HPS0941 NEW
5 HPS0953 NEW HPS0954 NEW
42. Fanconi anemia  
Fanconi anemia 1 HPS0511
2 HPS0512
43. Epstein syndrome
Epstein syndrome 1 HPS0452 HPS0453 HPS0454 PMID: 23193063
44. Macular dystrophy   
Age related Macular degeneration 1 HPS1072
Best disease 1 HPS1012
45. Leber Hereditary Optic Neuropathy   
Leber Hereditary Optic Neuropathy 1 HPS1071
46. Bardet-Biedl syndrome   
Bardet-Biedl syndrome 1 HPS0155* HPS0156* HPS0157*
47. Gelatinous drop-like corneal dystrophy
Gelatinous drop-like corneal dystrophy 1 HPS1013
48. Muscular channelopathy
Muscular channelopathy 1 HPS0967 HPS0968 HPS0969 HPS0970 HPS0971 HPS0972
2 HPS0979 HPS0980
3 HPS0981
4 HPS0991 HPS0992 HPS0993 HPS0994/td>

HPS0995 HPS0996 HPS0997
5 HPS1057 HPS1058 HPS1059 HPS1060/td>

HPS1061
49. Severe congenital neutropenia   
Severe congenital neutropenia 1 HPS0218 HPS0219 HPS0220
50. Juvenile nephronophthisis   
Juvenile nephronophthisis 1 HPS0446 HPS0447 HPS0448 PMID: 23193063
2 HPS0449 HPS0450 HPS0451 PMID: 23193063
51. Ornithine transcarbamylase deficiency (OTCD)  
Ornithine transcarbamylase deficiency (OTCD)
(RCB0492 OTCD1TKB)
1 HPS0086* HPS0087* HPS0088*
52. Pseudo congenital lactic acidosis 
Pseudo congenital lactic acidosis
(RCB0266 CLA1RGB)
1 HPS0201* HPS0202* HPS0203*
53. Alzheimer disease  
Alzheimer disease 1 HPS0254
2 HPS0255
3 HPS0256
4 HPS0257
5 HPS0258
6 HPS0259
7 HPS0260
8 HPS0261
HPS0262 PMID: 21900357
10 HPS1745 HPS1747 PMID: 23434393
11 HPS1746> PMID: 23434393
Alzheimer disease , Familial type 1 HPS0362 HPS0363 PMID: 21900357
2 HPS0364 HPS0365 PMID: 21900357
54. Dementia of Alzheimer’s type 
Dementia of Alzheimer’s type 1 HPS0060
55. Familial central diabetes insipidus  
Familial central diabetes insipidus 1 HPS0407 HPS1010
2 HPS1011
56. Reticular dysgenesis
Reticular dysgenesis 1 HPS0513
2 HPS0514
57. Rheumatoid Arthritis  
Rheumatoid Arthritis 1 HPS0440 HPS0441 HPS0442 PMID: 23193063
24399248
2 HPS0443 HPS0444 HPS0445 PMID: 23193063
24399248
58. Miyoshi myopathy 
Miyoshi myopathy 1 HPS0390 HPS0391 HPS0392
2 HPS0397 HPS0398 HPS0399
3 HPS0408 HPS0409 HPS0410
4 HPS0961 HPS0962 HPS0963 HPS0964 HPS0965 HPS0966
5 HPS0973 HPS0974 HPS0975 HPS0976 HPS0977 HPS0978
59. Long QT Syndrome and Brugada Syndrome  
Long QT Syndrome and Brugada Syndrome, P631fs/33 1 HPS0221 HPS0222
60. Chédiak-Higashi syndrome 
Chédiak-Higashi syndrome 1 HPS0515
2 HPS0516
61. Kostmann syndrome  
Kostmann syndrome 1 HPS0519 HPS0520 HPS0521
62. Bernard-Soulier syndorome  
Bernard-Soulier syndorome 1 HPS0078 HPS0079 HPS0190 HPS0191
63. Pyruvate dehydrogenase deficiency  
Pyruvate dehydrogenase deficiency
(RCB0546 AT-PDH1TKB)
1 HPS0204* HPS0205* HPS0206*
64. Atopic dermatitis  
Atopic dermatitis 1 HPS0270 HPS0271 HPS0272
65. Allergic rhinitis 
Allergic rhinitis (Pollen allergy) 1 HPS0192
66. iPS-like cells derived from colorectal adenocarcinoma
iPS-like cells derived from colorectal adenocarcinoma 1 HPS0112