Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Afford New Opportunities in Inherited Cardiovascular Disease Modeling

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	РВ, OSKM	[49]
	PKP2	Plakophilin 2	c.2013delC	Fibroblasts	Epi, OSKM
Arrhythmogenic right ventricular dysplasia (ARVD)	PKP2	Plakophilin 2	c.972InsT/N	Fibroblasts	RV, OSK	[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	LV, 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]

PB: PiggyBac, RV: retroviruses, LV: lentiviruses, Epi: episomes, and OCT4 (O), SOX2 (S), KLF4 (K), and c-MYC (M).