Table 5.
Human IPSC-derived patient-specific cardiomyopathy cell models.
| Disease | Gene | Protein | Mutation | Donor cell types | Reprogramming method | References |
|---|---|---|---|---|---|---|
| Arrhythmogenic right ventricular dysplasia (ARVD) | PKP2 | Plakophilin 2 | c.2484C>T | Fibroblasts | РВa, OSKMb | [49] |
| PKP2 | Plakophilin 2 | c.2013delC | Fibroblasts | Epic, OSKM | ||
|
| ||||||
| Arrhythmogenic right ventricular dysplasia (ARVD) | PKP2 | Plakophilin 2 | c.972InsT/N | Fibroblasts | RVd, OSKb | [48] |
|
| ||||||
| Arrhythmogenic right ventricular dysplasia (ARVD) | PKP2 | Plakophilin 2 | c.1841T>C (p.L614P) | Fibroblasts | RV, OSKM | [54] |
|
| ||||||
| Dilated cardiomyopathy | DES | Desmin | с.940C>T (p.A285V) | Fibroblasts | RV, OSKM | [52] |
|
| ||||||
| Barth syndrome (dilated cardiomyopathy) | TAZ1 | Tafazzin | c.590G>T, p. G197V | Fibroblasts | LVf, OSKM | [60] |
| c.110-1AG>AC | ||||||
| 170G>T, p. R57L | ||||||
|
| ||||||
| Dilated cardiomyopathy | TNNT2 | Troponin T type 2 (cardiac) | p.R173W | Fibroblasts | LV, OSKM | [51] |
|
| ||||||
| Hypertrophic cardiomyopathy | MYH7 | Myosin heavy chain beta | p.R663H | Fibroblasts | LV, OSKM | [50] |
|
| ||||||
| LEOPAPD syndrome (hypertrophic cardiomyopathy) | PTPN11 | Protein tyrosine phosphatase, nonreceptor type 11 | p.T468M | Fibroblasts | RV, OSKM | [62] |
PBa: PiggyBac, RVd: retroviruses, LVf: lentiviruses, Epic: episomes, and OCT4 (O), SOX2 (S), KLF4 (K), and c-MYC (M)b.