Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases

Liang, Yuqin; Sun, Xihao; Duan, Chunwen; Tang, Shibo; Chen, Jiansu

doi:10.1186/s13287-023-03564-5

Stem Cell Research & Therapy

Table 1 Source of reprogrammed iPSCs in IRDs

From: Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases

Type	Pathogenic gene and locus	iPSC source	Gender	Age	Method	References
RP	PRPF8 c.5792C > T, p.T1931M	UCs	Male	17	Episomal plasmid electroporation	[148]
	PRPF6 c.2699G > A, p.R900H	PBMCs	Female	15	Episomal plasmid electroporation	[149]
	SLC7A14 c.988G > A, p.G330R	PBMCs	Male	6	Episomal plasmid electroporation	[150]
	CRB1 c.2249G > A, p.G750D and c.2809G > A, p.A937T	PBMCs	Male	22	Episomal plasmid electroporation	[151]
	CRB1 c.1369C > T, p.R457X and c.2027C > T, p.T676M	PBMCs	Male	10	Lentiviral vectors	[152]
	RP1 c.2098G > T, p.E700X	DFs	Female	76	Episomal plasmid vectors	[153]
	RP1 c.2161_2162insC	DFs	Female	67	Retroviral vectors	[23]
	RP9 c.401A > T, p.H137L	DFs	Male	39	Retroviral vectors	[23]
	RHO c.562G > A, p.G188R	DFs	Male	40	Sendai virus	[154]
	RHO c.644C > T, p.P215L	DFs	Female	35	Sendai virus	[155]
	PRPH2 c.946T > G, p.W316G	DFs	Female	67	Retroviral vectors	[23]
	RPGR c.1685_1686delAT	UCs	Male	24	Lentiviral vectors	[48]
	USH2A c. CGC > CAC, p.R4192H	Keratinocytes	Unknown	62	Sendai virus	[52]
	USH2A c.2209C > T, p.R737* and c.8693A > C, p.Y2898S	DFs	Female	63	Sendai virus	[156]
LCA	NMNAT1 c.709C > T, p.R237C	PBMCs	Female	1	Sendai virus	[157]
	AIPL1 c.834G > A, p.W278X	UCs	Unknown	3	Episomal plasmid electroporation	[65]
	AIPL1 c.834G > A, p.W278X and c.466-1G > A, intron	UCs	Twins	2	Episomal plasmid electroporation	[65]
	AIPL1 c.265T > C, p.C89R	DFs	Female	31	Sendai virus	[158]
	CRX c.695delC	DFs	Male	6	Sendai virus	[159]
	RDH12 c.184C > T, p.R62* and c.437T > A, p.V146D	PBMCs	Male	13	Sendai virus	[160]
	RDH12 c.619A > G, p.N207D	DFs	Female	40	Episomal plasmid electroporation	[161]
XLRS	RS1 c.488G > A, p.W163X	PBMCs	Male	16	Sendai virus	[162]
	RS1 c.527T > A, p.F176Y	PBMCs	Male	13	Episomal plasmid electroporation	[163]
	RS1 c. 304C > T, p.R102W	UCs	Male	11	Sendai virus	[164]
	RS1 c.214G > A, p.E72K	PBMCs	Male	8	Episomal plasmid vectors	[165]
	RS1 c.305G > A, p.R102E	PBMCs	Male	7	Episomal plasmid vectors	[166]

UCs—urine cells; PBMCs—peripheral blood mononuclear cells; DFs—dermal fibroblasts
*Termination codon

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ISSN: 1757-6512

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