Human induced pluripotent stem cells for monogenic disease modelling and therapy

Table 3 Models of monogenic X-linked recessive diseases

Diseases	Genetic defects	Target cells for reprogramming	Delivery methods	Disease relevant cells	Ref.
Fragile X syndrome (OMIM #300624)	FMR1 silencing	HF	Retroviral vectors (O, S, K, M)	Neurons	[146]
		HF	Retroviral vectors (O, S, K, M)	Forebrain Neurons	[147]
		HF	Sendai virus	NPC	[148]
Duchenne muscular dystrophy (OMIM #310200)	Dystrophin gene mutations	HF	Retroviral vectors (O, S, K, M)	Myogenic cells	[154]
		HF	Retroviral vectors (O, S, K, M)	CMs	[155]
		HF	Retroviral vectors (O, S, K, M)	Neurons	[156]
Wiskott-aldrich syndrome (OMIM #301000)	WASP mutations	HF	Retroviral vectors/sendai virus vectors (O, S, K, M)	Megakaryocytes	[157]
Rett syndrome (OMIM #312750)	MeCP2/CDKL5 mutations	HF	Retroviral vectors (O, S, K, M)	Neurons	[158]
		HF	Retroviral vectors (O, S, K, M)	NPCs/mature neurons	[159]
		HF	Retroviral vectors (O, S, K, M)	NPCs/mature neurons	[160]
Hemophilia A (OMIM #306700)	Deficiency of factor VIII	Urine cells	Episomal vectors (O, S, K, SV40LT)	Hepatocytes	[161]

NPC: Neural progenitor cells; CMs: Cardiomyocytes; HF: Human fibroblasts; O: OCT4; S: SOX2; K: KLF4; M: C-MYC.