外周血单个核细胞
生物
诱导多能干细胞
KLF4公司
SOX2
突变
分子生物学
基因
病毒学
遗传学
体外
胚胎干细胞
转录因子
作者
Koushik Chakrabarty,K. N. Prashanthi,Rohit Shetty,Shubham Argulwar,Nallathambi Jeyabalan,Arkasubhra Ghosh
标识
DOI:10.1016/j.scr.2022.102789
摘要
Macular corneal dystrophy (MCD) an autosomal recessive disorder leading to severe visual impairment is caused by mutations in the carbohydrate sulfotransferase 6 (CHST6) gene. Here, we describe generation of a iPSC line from peripheral blood mononuclear cells (PBMCs) from a 38 year old MCD patient harboring a homozygous mutation, p.V172L in the CHST6 gene. The iPSC line GLNNFi001-A was generated using an integration-free Sendai virus containing (KLF4, c-MYC, OCT4 and SOX2).
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