List of diseases ( 1 )

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Update : 2017.02.17

Name of diseases Patient No HPS Reference
1. 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*
2. Fanconi anemia
Fanconi anemia 1 HPS0511
2 HPS0512
3. Systemic lupus erythematosus
Systemic lupus erythematosus 1 HPS1752 NEW HPS1753 NEW
2 HPS1754 NEW HPS1755 NEW
4. Sjögren’s syndrome
Dermatomyositis (DM) 1 HPS0172* HPS0173* HPS0174*
polymyositis (PM) 1 HPS1788 NEW HPS1789 NEW
2 HPS1790 NEW HPS1791 NEW
5. Sjögren’s syndrome
Sjögren’s syndrome 1 HPS0437 HPS0438 HPS0439 PMID: 23193063
24399248
2 HPS1777 NEW
6. Cryopirin-associated periodic syndrome (CAPS)
Chronic infantile neurological cutaneous and articular syndrome (CINCA syndrome) 1 HPS0117 HPS0118 PMID: 22723549
2 HPS0119 HPS0120 PMID: 22723549
7. Nakajo-Nishimura Syndrome
Nakajo-Nishimura Syndrome 1 HPS0517
2 HPS0518
8. Hypopituitarism
Hypopituitarism 1 HPS1073
2 HPS1766 NEW
3 HPS1767 NEW
4 HPS1768 NEW
5 HPS1769 NEW
6 HPS1770 NEW
7 HPS1771 NEW
9. Lysosomal storage disease
Metachromatic leukodystrophy (MLD) 1 HPS0238* HPS0239* HPS0240* NEW
Tay-Sachs’ disease (RCB0697 GM2-1TKB) 1 HPS0149* HPS0150* HPS0151*
Niemann-Pick disease, variant biochemical phenotype 1 HPS0488 HPS0489 HPS0490 PMID: 23193063
24399248
10. Mitochondrial encephalomyopathy
Mitochondrial encephalomyopathy 1 HPS0069* HPS0070* HPS0071* NEW
2 HPS0458 HPS0459 HPS0460 PMID: 23193063
24399248
3 HPS0461 HPS0462 HPS0463 PMID: 23193063
24399248
11. Amyloid neuropathy
Amyloid neuropathy, Familial type 1 HPS0224* HPS0225* HPS0226*
2 HPS0227* HPS0228*
12. Wilson’s disease
Wilson’s disease (RCB0390 NCU-F3)
Wilson’s disease (RCB0391 NCU-F4)
Wilson’s disease (RCB0395 NCU-F8)
1 HPS0049 HPS0050 HPS0051 HPS0052
2 HPS0053 HPS0054 HPS0055 HPS0056
3 HPS0045 HPS0046 HPS0047 HPS0048
13. Glycogen storage disease, type II (Pompe’s disease)
Glycogen storage disease, type II (Pompe’s disease) 1 HPS0175* HPS0176* HPS0177*
14. Glycogen storage disease, Type 1b
Glycogen storage disease, Type 1b 1 HPS0064* HPS0065*


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