Human induced pluripotent stem cells for monogenic disease modelling and therapy

Table 2 Models of monogenic recessive diseases

Diseases	Genetic defects	Target cells for reprogramming	Delivery methods	Disease relevant cells	Ref.
Spinal muscular atrophy (OMIM #253300)	SMN1 mutations	HF	Lentiviral vectors (O, S, NANOG, LIN28)	Neurons/astrocytes/motor neurons	[109]
		HF	Retroviral vectors (O, S, K, M)	Motor neurons	[110]
		HF	Lentiviral vectors (O, S, NANOG, LIN28)	Motor neurons	[112]
		HF	Retroviral vectors (O,S, K, M)	GABAergic neurons	[113]
β-thalassaemia (OMIM #613985)	Point mutations or deletions in the β-globin (HBB) gene	HF/AF/CVS	Retroviral vectors (O, S, K, M)	Hematopoietic cells	[116]
		AF	Lentiviral vectors (O, S, K, M)	Hematopoietic cells	[118]
		HF/MSCs	Lentiviral vectors (O, S, K, M)	Erythroid cells	[119]
		HF	PiggyBac transposon	Hematopoietic cells	[120]
Cystic fibrosis (OMIM #219700)	CFTR mutations	HF	Lentiviral vectors (O, S, K, M)	Mature airway epithelial cells	[126]
		HF	Modified RNAs (RiPSC)	Mature airway epithelial cells	[127]
		HF	Retroviral vectors (O, S, K, M)	Mature airway epithelial cells	[128]
		HF	Retroviral vectors (O, S, K, M)	CLCs	[130]
Sickle cell disease (OMIM #603903)	HBB mutations	HF	Retroviral vectors (O, S, K, M)	Erythrocytes	[135]
		HF	Lentiviral vectors (O, S, K, M)	None	[136]
Hutchinson-gilford progeria syndrome (OMIM #176670)	LMNA mutations	HF	Retroviral vectors (O, S, K, M)	Neural progenitors, endothelial cells, fibroblasts, VSMCs, and MSCs	[137]
		HF	Retroviral vectors (O, S, K, M)	Vascular SMCs	[138]
		HF	Retroviral vectors (O, S, K, M)	MSCs and osteogenic cells	[139]
Niemann–pick disease type C1 (OMIM #257220)	NPC1 mutations	HF	Retroviral vectors (O, S, K, M)	Neurons	[140]
		HF	Lentiviral vectors (O, S, K, M)	Neurons	[141]
		HF	SeV vectors (O, S, K, M)	HLCs and neural progenitors	[142]

CLCs: Cholangiocytes; VSMCs: Vascular smooth muscular cells; MSCs: Mesenchymal stem cells; SMCs: Smooth muscle cells; MSCs: Mesenchymal stem cells; HLCs: Hepatocyte-like cells; SeV: Sendai virus; AF: Amniotic fluid cells; CVS: Chorionic villus; HF: Human fibroblasts; O: OCT4; S: SOX2; K: KLF4; M: C-MYC.