Cardiac disease modeling using induced pluripotent stem cell-derived human cardiomyocytes

Table 2 Inherited cardiac diseases modeled using Induced pluripotent stem cell

Cardiac disease	Gene	Protein/current	Chr	Mutation	Differentiation method	Cardiomyocyte subtype	Maturation days	Ref.
HCM	MYH7	Myosin heavy chain β	14q12	R663H	3D spontaneous			[19]
DCM	LMNA	Lamin A	1q22	R225X	END-2 co-culture	V- and A-like	20	[25]
				GCCA insertion
	TNNT2	Troponin T type 2	1q32	R173W	3D, activin, BMP4, DKK1, FGF2, VEGF	V-, A-, and N-like	> 30	[27]
	DES	Desmin	2q35	A285V	END co-culture	n.d.	> 14	[26]
BTHS	TAZ	Tafazzin	Xq28	517delG	2D, activin, BMP4	n.d.	> 12	[30]
				c.328T>C
LQT1	KCNQ1	Kv7.1/I(Ks)	11p15	R190Q	3D spontaneous	V-, A-, and N-like	20-30	[36]
LQT2	KCNH2	hERG/I(Kr)	7q36	R176W	3D spontaneous	V- and A-like	n.d.	[42]
				A561T		V-, A-, and N-like	25-30	[38]
				A561V		V- and A-like	21	[45]
				A614V		V-, A-, and N-like	> 30	[37]
				N996I		n.d.	20-60	[43]
LQT3	SCN5A	Nav1.5 /I(Na)	3p21	F1473C	3D, activin, BMP4, Wnt-I, FGF2	V- and A-like	25-45	[50]
				V1763M	3D spontaneous	V-, A-, and N-like	> 28	[51]
				V240M, R535Q	END-2 co-culture	V-, A-, and N-like	20-30	[52]
LQT8	CACNA1C	CaV1.2/I(Ca)	12p13	G1216A	3D + Wnt3a	V-, A-, and N-like	> 37	[55]
CPVT	RYR2	Ryanodine receptor 2/I(Ca)	1q43	F2483I	END-2 co-culture	V-, A-, and N-like	20-30	[61]
				P2328S	END-2 co-culture	Mostly V-like	n.d.	[62]
				S406L	3D spontaneous	V-, A-, and N-like	> 70	[64]
				M4109R	3D spontaneous	V-, A-, and N-like	> 30	[65]
				E2311D	3D spontaneous	V/A- and N-like	> 30	[66]
	CASQ2	Calsequestrin	1p13	D307H	3D spontaneous	n.d.	25-43	[67]
ARVC	PKP2	Plakophilin-2	12p11	L614P	3D spontaneous	V-, A-, and N-like	> 28	[72]
				A324fs335X	3D spontaneous	n.d.	> 30	[73]
				T50SfsX110
				Criptic splicing	3D spontaneous	n.d.	> 60	[74]
				c.2013delC

HCM: Hypertrophic cardiomyopathy; DCM: Dilated cardiomyopathy; BTHS: Barth syndrome; LQT: Long-QT; CPVT: Catecholaminergic polymorphic ventricular tachycardia; ARVC: Arrhythmogenic right ventricular cardiomyopathy; n.d.: Not defined.