Table 1. Summary of iPSC-based disease modeling and drug evaluation.

Disease type	Disease name	Genetic cause	iPSCs differentiated to:	Phenotype	Drug test	Ref
Neurological	Alzheimer's disease	Polygenic (including mutation in PS1 and PS2	Neurons	Increase Aβ42 secretion	γ-Secretase inhibitors and modulators blocked Aβ42 secretion	32
	Amyotrophic lateral sclerosis	Polygenic (including SOD1 mutation)	Motor neurons	ND	ND	29
	Angelman syndrome and Prader-Willi syndrome	Polygenic (chromosome 15q deletion, imprinting disorders)	Disease iPSCs obtained	ND	ND	35
	Down syndrome	Monogenic	Disease iPSCs obtained	ND	ND	33
	Familial dysautonomia	Monogenic (IKBKAP mutaion)	All three germ layers including neural crest cells	Splicing defect in IKBKAP, cellular migration defect and neurogenesis defect	Small molecule kinetin reduced the splicing defect and modestly affected neurogenesis	4
	Fragile X syndrome	Monogenic	Disease iPSCs obtained	Loss of FMR1 expression	ND	95
		Monogenic	Disease iPSCs obtained	Changes GAA-TTC repeat	ND	96
	Friedreich ataxia Huntington's disease	Monogenic (CAG repeat expansion in Huntingtin gene)	Neuronal precursors and striatal neurons	Contain same CAG expansion, enhanced caspase activity upon growth factor deprivation	ND	33
			Neurons	Significant increase in lysosomal activity	ND	97
	Parkinson's disease	Polygenic	Dopaminergic neurons	No obvious defect	ND	98
		Polygenic (including PINK1 mutation)	Dopaminergic neurons	Impaired recruitment of Parkin, dysfunction of mitochondria	ND	30
	RETT syndrome	Monogenic (MeCP2 mutation)	Neural progenitor cells and functional neurons	Loss of synapses, reduced spine density, smaller soma size	IGF1 increased glutamatergic synapse number; gentamicin increased MeCP2 protein level and synapse number	5
	Schizophrenia	Polygenic	Neurons	Reduced neurite density, neuronal connectivity and glutamate receptor expression	Loxapine increased neuronal connectivity and glutamate receptor expression	37
	Spinal muscular atrophy	Monogenic (SMN1 deletion)	Neurons and astrocytes, mature motor neurons	Loss of SMN1 gene expression, susceptible to degeneration	Valproic acid and tobramycin increased the number of SMNrich structures	25
Cardiac and vascular	Arrhythmogenic right ventricular cardiomyopathy	Polygenic (including PKP2 mutation)	Cardiomyocytes	Cardiomyocytes enlarged and contained more lipid content, reduced expression of PKP2 and plakoglobin	ND	46
	Brugada syndrome	Polygenic (including SCN5A mutation)	Cardiomyocytes	prolonged action potential, decreased current density	ND	45
	Catecholaminergic polymorphic ventricular tachycardia	Polygenic (including CASQ2 mutation)	Cardiomyocytes	Immature phenotype with less organized myofibrils, abnormal response towards β agonist	ND	47
	Long QT 1 syndrome	Monogenic (KCNQ1 mutation)	Cardiomyocytes	Prolonged action potential duration	ND	41
	Long QT 2 syndrome	Monogenic (KCNH2 mutation)	Cardiomyocytes	Prolonged action potential duration, reduction of the cardiac potassium current	Used to evaluate the effect of several ion channel blockers as anti-arrhythmic agents	42
	Timothy syndrome	Monogenic	Cardiomyocytes	Increased cardiomyocyte depolarization	Roscovitine restored the electrical and Ca2+ signaling properties	44
	LEOPARD syndrome	Monogenic (PTPN11 mutation)	Cardiomyocytes	Increased cardiomyocyte size, higher degree of sarcomeric organization and nuclear localization of NFATC	ND	39
Others diseases	A1-antitrypsin deficiency	Monogenic	Liver cell	Loss of A1-antitrypsin expression	ND	53
	Diabetes (Type 1)	Polygenic	Insulin-producing cells	ND	ND	19
	Diabetes	Polygenic (with mitochondrial DNA A3243G mutation)	Disease iPSCs obtained	ND	ND	99
	Fibrodysplasia ossificans progressiva	Monogenic (ALK2 mutation)	Disease iPSCs obtained	Constitutive activation of ALK2, blocking reprogramming	ALK2 inhibitors rescued reprogramming	100
	Polycystic kidney disease 1	Monogenic (Pkd1 deletion)	Disease iPSCs obtained	iPSCs underwent auto-correction by mitotic recombination	ND	101

ND: not determined.