Table 1.
Overview on diseases modeled with patient-specific iPSCs.
| Disease background | Genetic disease | Donor cell type | Cell type generated | Drug testing | Reference |
|---|---|---|---|---|---|
| Hematologic | Fanconi anaemia | Fibroblasts | Hematocytes | ND | 43 |
| Fragile X Syndrome | Fibroblasts | ND | ND | 47 | |
| Thalassemia | Fibroblasts | Hematopoietic | ND | 45 | |
| Down syndrome (Trisomy 21) | Fibroblasts | ND | ND | 44 | |
| Type 1 diabetes | Fibroblasts | Insulin- and glucagon-producing cells | ND | 44 | |
| Swachman-Bodian-Diamond syndrome (SBDS) | Bone marrow mesenchymal cells | ND | ND | 44 | |
| Hurler syndrome (Mucopolysaccharidosis type I, MPS IH) | Fibroblasts, bone marrow mesenchymal cells | Hematopoietic | ND | 48 | |
| Cardiac/Cardiovascular | LQT syndrome type I | Fibroblasts | Cardiomyocytes | Yes | 57 |
| LQT syndrome type II | Fibroblasts | Cardiomyocytes | Yes | 56 | |
| Timothy syndrome (LQT syndrome type VII) | Fibroblasts | Cardiomyocytes | Yes | 58 | |
| LEOPARD syndrome | Fibroblasts | Cardiomyocytes | ND | 62 | |
| Duchenne muscular dystrophy (DMD) | Fibroblasts | ND | ND | 44, 126 | |
| Becker muscular dystrophy (BMD) | Fibroblasts | ND | ND | 44, 101 | |
| Hutchinson Gilford Progeria (HGPS) | Fibroblasts | Smooth muscle cells, Mesenchymal stem cells | ND | 59 | |
| Neurological | Amyotrophic lateral sclerosis (ALS) | Fibroblasts | Motor neurons, glial cells | ND | 8 |
| Parkinson disease (PD) | Fibroblasts | Dopaminergic neurons | Yes | 65, 66 | |
| Spinal muscular atrophy (SMA) | Fibroblasts | Motor neurons | Yes | 9 | |
| Huntington disease (HD) | Fibroblasts | ND | ND | 44 | |
| Schizophrenia (SCZD) | Fibroblasts | Neurons | ND | 61, 125 | |
| Autism spectrum disorders (ASD) | Fibroblasts | Neurons | ND | 67 | |
| Prader-Willi Syndrome | Fibroblasts | Neurons | ND | 54 | |
| Angelman and Prader-Willi Syndrome | Fibroblasts | Neurons | ND | 55 | |
| Familial dysautonomia | Fibroblasts | Neural crest cells | Yes | 64 | |
| RETT syndrome | Fibroblasts | Neurons | Yes | 67 | |
| Friedreich’s ataxia | Fibroblasts | ND | ND | 63 | |
| Others | Lesch-Nyhan syndrome (carrier stage) | Fibroblasts | ND | ND | 44 |
| Adenosine deaminase deficiencyrelated severe combined immunodeficiency (ADA-SCID) | Fibroblasts | ND | ND | 44 | |
| Gaucher disease type III (GD) | Fibroblasts | ND | ND | 44 | |
| X-linked chronic granulomatous disease (X-CGD) | Bone marrow mesenchymal cells | Neutrophil | ND | 41 | |
| A1-antitrypsin deficiency | Fibroblasts | Hepatocytes | Yes | 69 |