Human induced pluripotent stem cells for monogenic disease modelling and therapy

Table 1 Models of monogenic dominant diseases

Diseases	Genetic defects	Target cells for reprogramming	Delivery methods	Disease relevant cells	Ref.
Huntington’s disease (OMIM #143100)	Expanded CAG repeat in HTT gene	HF	Lentiviral vectors (O, S, K, M, NANOG and LIN28)	Neurons	[79]
		HF	Retroviral vectors (O, S, K, M)	Astrocytes	[80]
		HF	Lentiviral vectors (O, S, K, M)	Neurons	[81]
		HF	Retroviral vectors (O, S, K, M)	Neurons	[82]
		HF	Retroviral vectors (O, S, K, M)	GABAergic neurons	[83]
		HF	Retroviral vectors (O, S, K, M)	Striatal neurons	[84]
Marfan syndrome (OMIM #154700)	FBN1 mutations	HF	Retroviral vectors (O, S, K, M)	Osteogenic cells chondrogenic cells	[87]
Myotonic dystrophy type 1 (OMIM #160900)	Expanded CTG repeat in DMPK gene	HF	Retroviral vectors (O, S, K, M)	NS	[92]
		HF	Retroviral vectors (O, S, K, M)	NSC	[94]
Achondroplasia (OMIM #100800)	FGFR3 mutations	HF	Episomal plasmid vectors (O, S, K, M, LIN28 and p53 shRNA)	Chondrocytes	[97]
Familial hypercholesterolemia (OMIM #143890)	LDLR mutations	HF	Retroviral vectors (O, S, K, M)	HLC	[99]
		HF	Lentiviral vectors (O, S, NANOG, LIN28)	Hepatocytes	[100]
		HF	Retroviral vectors (O, S, K, M)	HLC	[101]
Timothy syndrome (OMIM #601005)	CACNA1C mutations	HF	Retroviral vectors (O, S, K, M)	Cardiac myocytes	[102]
		HF	Retroviral vectors (O, S, K, M)	Cortical neuronal precursor cells and neurons	[103]
		HF	Retroviral vectors (O, S, K, M)	Cortical neuronal precursor cells and neurons	[104]

NS: Neurosphere; NSC: Neural stem cell; HLC: Hepatocyte-like cells; HF: Human fibroblasts; O: OCT4; S: SOX2; K: KLF4; M: C-MYC.