利用CRISPR/Cas9基因校正技术生成EIEE1患者ARX基因R330L突变同基因iPSC对照系
Generation of an isogenic gene-corrected iPSC line (OGHFUi001-A-1) from a type 1 early infantile epileptic encephalopathy (EIEE1) patient with a hemizygous R330L mutation in the ARX gene
Xiaohui Gong, Zhangqian Zheng, Tong Yang, Huiying Zheng, Xirong Xiao, Nan Jia
Journal：Stem Cell Research
IF：1.59
DOI：10.1016/j.scr.2022.102693
PMID：35121198
Published：2022-01-28
research field：肿瘤学分子生物学癌症研究细胞生物学
Abstract
Type 1 early infantile epileptic encephalopathy (EIEE1) is a rare X-link neurodevelopmental disorder caused by mutations in the ARX gene. The mechanism remains unclear due to the lack of cellular models for the disease. We previously have generated an iPSC line (OGHFUi001-A) from a male EIEE1 patient with a hemizygous R330L mutation in the ARX gene. Here we corrected the R330L mutation genetically using CRISPR/Cas9 technology to generate an isogenic control, which was an ideal control to investigate the pathogenesis of the mutation in this disease.
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