Table 1

Summary of existing studies which have used patient-specific iPSC-CMs in cardiac disease modelling

Disease modelled	Reprogramming method	Gene mutation	Methods used to evaluate cellular phenotype	In vitro abnormality of patient-derived iPSC-CMs	Number of patients in study	Controls used	Reference
LQTS type 1	Retroviral integration	R190Q mutation in KCNQ1 gene	Whole cell patch clamp; immunohistochemistry	I_Ks	2 (father and son from affected family)	2 healthy individuals	9
LQTS type 2	Retroviral integration	A614V mutation in the KCNH2 gene	Whole cell patch clamp; multielectrode recordings	APD prolongation; decrease in I_Kr	1	1 healthy individual	10
LQTS type 2	Lentiviral integration	G1681A mutation in the KCNH2 gene	Whole cell patch clamp; multielectrode recordings; response to drugs, including K⁺ channel blockers and openers and B-blockers	APD prolongation; increased sensitivity of cells to drugs and increased after depolarisations	2 (mother and daughter)	Cardiomyocytes from HUES7 cell line and genetically unrelated hESC-derived fibroblasts	11
LQTS type 8 (Timothy syndrome)	Retroviral integration	G406R mutation in the CACNA1C gene	Whole cell patch clamp; confocal microscopy	I_Ca	2 (unrelated)	2 healthy individuals	12
LEOPARD syndrome	Retroviral integration	T468M mutation in PTPN11 gene	Microscopic morphometry; immunocytochemistry; antibody array and western blot analyses	iPSC-CMs from patients were larger, showed higher degree of sarcomeric organisation and preferential nuclear localisation of NFATC4	2 (unrelated)	2 hESC and unaffected brother of one of the patients	13

APD, action potential duration; hESC, human embryonic stem cell; iPSC-CM, induced pluripotent stem cell-derived cardiomyocytes; LQTS, long QT syndrome.