List of diseases ( 5 )

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*In relation to the information that are not described below, please e-mail to the following address.

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*iPS cells created using the Sendai virus vector are now available

Update : 2017.02.17

Name of diseases Patient No HPS Reference
47. Bardet-Biedl syndrome
Bardet-Biedl syndrome 1 HPS0155* HPS0156* HPS0157*
48. Gelatinous drop-like corneal dystrophy
Gelatinous drop-like corneal dystrophy 1 HPS1013 NEW
49. Muscular channelopathy
Muscular channelopathy 1 HPS0967 HPS0968 HPS0969 HPS0970 HPS0971 HPS0972
2 HPS0979 HPS0980
3 HPS0981
4 HPS0991 HPS0992 HPS0993 HPS0994 HPS0995 HPS0996 HPS0997
5 HPS1057 HPS1058 HPS1059 HPS1060 HPS1061
50. Severe congenital neutropenia
Severe congenital neutropenia 1 HPS0218 HPS0219 HPS0220
51. Juvenile nephronophthisis
Juvenile nephronophthisis 1 HPS0446 HPS0447 HPS0448 PMID: 23193063
2 HPS0449 HPS0450 HPS0451 PMID: 23193063
52. Ornithine transcarbamylase deficiency (OTCD)
Ornithine transcarbamylase deficiency (OTCD)(RCB0492 OTCD1TKB) 1 HPS0086* HPS0087* HPS0088*
53. Pseudo congenital lactic acidosis
Pseudo congenital lactic acidosis (RCB0266 CLA1RGB) 1 HPS0201* HPS0202* HPS0203*
54. 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 NEW HPS1747 NEW PMID: 23434393
11 HPS1746 PMID: 23434393
Alzheimer disease , Familial type 1 HPS0362 HPS0363 PMID: 21900357
2 HPS0364 HPS0365 PMID: 21900357
55. Dementia of Alzheimer’s type
Dementia of Alzheimer’s type 1 HPS0060
56. Familial central diabetes insipidus
Familial central diabetes insipidus 1 HPS0407 NEW HPS1010 NEW
2 HPS1011 NEW
3 HPS1763 NEW
4 HPS1764 NEW
5 HPS1765 NEW
57. Reticular dysgenesis
Reticular dysgenesis 1 HPS0513
2 HPS0514
58. Rheumatoid Arthritis
Rheumatoid Arthritis 1 HPS0440 HPS0441 HPS0442 PMID: 23193063
24399248
2 HPS0443 HPS0444 HPS0445 PMID: 23193063
24399248
59. Miyoshi myopathy
Miyoshi myopathy 1 HPS0390 NEW HPS0391 HPS0392
2 HPS0397 NEW HPS0398 HPS0399
3 HPS0408 NEW HPS0409 HPS0410
4 HPS0961 HPS0962 HPS0963 HPS0964 HPS0965 HPS0966
5 HPS0973 HPS0974 HPS0975 HPS0976 HPS0977 HPS0978
60. Long QT Syndrome and Brugada Syndrome
Long QT Syndrome and Brugada Syndrome, P631fs/33 1 HPS0221 HPS0222
61. Chédiak-Higashi syndrome
Chédiak-Higashi syndrome 1 HPS0515
2 HPS0516
62. Kostmann syndrome syndrome
Kostmann syndrome 1 HPS0519 HPS0520 HPS0521
63. Bernard-Soulier syndorome
Bernard-Soulier syndorome 1 HPS0078 HPS0079 HPS0190 HPS0191
64. Pyruvate dehydrogenase deficiency
Pyruvate dehydrogenase deficiency(RCB0546 AT-PDH1TKB) 1 HPS0204* HPS0205* HPS0206*
65. RAS-associated autoimmune leukoproliferative disorder
RAS-associated autoimmune leukoproliferative disorder:RALD 1 HPS1792 NEW HPS1793 NEW HPS1794 NEW
2 HPS1795 NEW HPS1796 NEW HPS1797 NEW HPS1798 NEW
66. Atopic dermatitis
Atopic dermatitis 1 HPS0270 HPS0271 HPS0272
67. Allergic rhinitis
Allergic rhinitis (Pollen allergy) 1 HPS0192
68. iPS-like cells derived from colorectal adenocarcinoma
iPS-like cells derived from colorectal adenocarcinoma 1 HPS0112


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