ABCA4型
诱导多能干细胞
生物
复合杂合度
营养不良
外周血单个核细胞
视网膜
斯塔加德特病
细胞培养
遗传学
体外
基因
突变
表型
生物化学
胚胎干细胞
作者
Lu Tian,Xiaohui Zhang,Ke Xu,Yang Li
标识
DOI:10.1016/j.scr.2022.102894
摘要
ABCA4-associated retinal dystrophy is the most frequent inherited retinal dystrophy caused by biallelic variants in ABCA4 gene. We induced a new pluripotent stem cell line (BIOi003-A) from peripheral blood mononuclear cells (PBMCs) of a 14-year-old patient who carried the compound heterozygous variants c.(1222C>T;2919-884G>T) p.[Arg408Ter;Phe973LeufsTer3,=] in ABCA4. This line helps model the disease pathophysiology in vitro and construct 3D models for drug discovery.
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