Human Pluripotent Stem Cell-Derived Cardiomyocytes as Research and Therapeutic Tools

Table 1

Summary of genetic cardiac disorders that have been modeled using hiPSC-derived cardiomyocytes, including drugs that have been tested.

Cardiac disease	Affected gene	Mutation	Rescue, drug testing	References
Channelopathies
LQT1	KCNQ1	p.R190Q	Propranolol	[138]
		p.P631fs/33	Propranolol	[139]
LQT2	KCNH2	p.A614V	Nifedipine, pinacidil, ranolazine	[140]
		p.A561T	Propranolol, nicorandil, PD-118057	[141]
		p.R176W	Erythromycin, sotalol, cisapride	[142]
		p.G603D	N/A	[154]
		p.A561T	Mutation-specific siRNAs	[155]
LQT3	SCN5A	p.1795insD	N/A	[143]
		p.V1763M	Mexiletine	[156]
Timothy syndrome (LQT8)	CACNA1C	p.G406R	Roscovitine	[144]
CPVT1	RYR2	p.F2483I	N/A	[145]
		p.S406L	Dantrolene	[157]
		p.M4109R	Flecainide, thapsigargin	[146]
		p.P2328S	N/A	[147]
		p.Q231D	KN-93	[148]
		p.F2483I	N/A	[158]
CPVT2	CASQ2	p.D307H	N/A	[149]
Cardiomyopathies
LEOPARD syndrome	PTPN11	p.T468M	N/A	[137]
DCM	TNTT2	p.R173W	SERCA2a, metoprolol, norepinephrine	[150]
HCM	MYH7	p.R663H	PVNDLMR^#	[159]
ARVC	PKP2	p.L614P	N/A	[151]

 ^#PVNDLMR: propranolol, verapamil, nifedipine, diltiazem, lidocaine, mexiletine, and ranolazine.