生物
色素性视网膜炎
重编程
诱导多能干细胞
仙台病毒
遗传学
转录因子
突变
基因
胚胎干细胞
作者
Carla Sanjurjo-Soriano,Nejla Erkilic,Christel Vaché,Grégor Dubois,Anne‐Françoise Roux,Isabelle Meunier,Vasiliki Kalatzis
标识
DOI:10.1016/j.scr.2022.102738
摘要
We report here the generation of the human iPSC line INMi005-A from a patient with non-syndromic autosomal recessive retinitis pigmentosa caused by compound heterozygous mutations in the USH2A gene. The reprogramming of primary human dermal fibroblasts was performed using the non-integrative Sendai virus method and the OSKM transcription factor cocktail. The generated INMi005-A iPSC line is pluripotent and genetically stable, and will represent a valuable tool for understanding the pathophysiology associated with USH2A mutations.
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