|
Name of diseases |
Patient |
Cell line |
| 1 |
Parkinson’s disease |
7 |
14 |
2 |
Retinitis pigmentosa |
7 |
11 |
3 |
Spinocerebellar Degeneration |
4 |
10 |
| 4 |
X-Linked α-Thalassemia, Mental Retardation Syndrome (ATR-X syndrome) |
1 |
2 |
| 5 |
Congenital Cerebral Hypomyelination |
2 |
6 |
| 6 |
Moyamoya disease |
2 |
6 |
| 7 |
Bardet-Biedl syndrome |
1 |
3 |
| 8 |
Lysosomal storage disease |
3 |
9 |
| 9 |
Huntington’s disease |
1 |
1 |
| 10 |
Amyotrophic lateral sclerosis (ALS) |
18 |
38 |
| 11 |
Spinal-Bulbar Muscular Atrophy |
3 |
7 |
| 12 |
Spinal muscular atrophy |
4 |
10 |
| 13 |
Primary lateral sclerosis (PLS) |
2 |
5 |
| 14 |
Charcot-Marie-Tooth disease |
5 |
11 |
| 15 |
Progressive systemic sclerosis (PSS) |
2 |
6 |
| 16 |
Cockayne’s syndrome |
1 |
3 |
| 17 |
Cryopirin-associated periodic syndrome |
2 |
4 |
| 18 |
Osteogenesis Imperfecta |
1 |
4 |
| 19 |
Hypophosphatasia |
2 |
2 |
| 20 |
Achondroplasia |
2 |
6 |
| 21 |
Fibrodysplasia ossificans progressiva (FOP) |
2 |
3 |
| 22 |
Muscular dystrophy |
12 |
43 |
| 23 |
Dermatomyositis (DM) |
1 |
3 |
| 24 |
Inclusion body myositis |
2 |
6 |
| 25 |
Congenital myopathy |
1 |
3 |
| 26 |
Long QT Syndrome and Brugada Syndrome |
1 |
2 |
| 27 |
Cardiomyopathy, dilated cardiomyopathy |
2 |
3 |
| 28 |
Cardiomyopathy, hypertrophic cardiomyopathy (HCM) |
3  |
6  |
| 29 |
Pulmonary hypertension |
1 |
3 |
| 30 |
Primary Immunodeficiency:PID |
3 |
11 |
| 31 |
Fanconi anemia |
2 |
2 |
| 32 |
Severe congenital neutropenia |
1 |
3 |
| 33 |
Epstein syndrome |
1 |
3 |
| 34 |
Juvenile nephronophthisis |
2 |
6 |
| 35 |
Sjögren’s syndrome |
1 |
3 |
| 36 |
Ehlers-Danlos syndrome, |
3 |
3 |
| 37 |
Nakajo-Nishimura Syndrome |
2 |
2 |
| 38 |
Amyloid neuropathy |
2 |
5 |
| 39 |
Glycogen storage disease |
1 |
3 |
| 40 |
Glycogen storage disease |
1 |
2 |
| 41 |
Werner syndrome |
1 |
6 |
| 42 |
Wilson’s disease |
3 |
12 |
| 43 |
Prader-Willi Syndrome |
1 |
3 |
| 44 |
Ornithine transcarbamylase deficiency |
1 |
3 |
| 45 |
Congenital disorders of biotin metabolism |
1 |
3 |
| 46 |
Mitochondrial encephalomyopathy |
3 |
9 |
| 47 |
Alzheimer disease |
11 |
13 |
| 48 |
Dementia of Alzheimer’s type |
1 |
1 |
| 49 |
Frontotemporal dementia |
1 |
3 |
| 50 |
Familial central diabetes insipidus |
1 |
1 |
| 51 |
Reticular dysgenesis |
2 |
2 |
| 52 |
Rheumatoid Arthritis |
2 |
6 |
| 53 |
Chédiak-Higashi syndrome |
2 |
2 |
| 54 |
Kostmann syndrome |
1 |
3 |
| 55 |
Bernard-Soulier syndorome |
2 |
4 |
| 56 |
Pyruvate dehydrogenase deficiency |
1 |
3 |
| 57 |
Atopic dermatitis |
1 |
3 |
| 58 |
Allergic rhinitis (Pollen allergy) |
1 |
1 |
| 59 |
Cancer |
1 |
1 |
|
|
151 |
352 |