Generation and characterization of PBMCs-derived human induced pluripotent stem cell (iPSC) line SDQLCHi051-A from an autism spectrum disorder patient with compound CHD8 gene mutations

患有复合 CHD8 基因突变的自闭症谱系障碍患者的 PBMCs 衍生的人类诱导性多能干细胞 (iPSC) 系 SDQLCHi051-A 的生成和表征

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作者:Yuxuan Fan, Yue Li, Xiaomeng Yang, Haiyan Zhang, Bin Wang, Jingyun Guan, Jianen Gao, Xu Ma, Yi Liu

Abstract

CHD8 mutation is a case of genetic related autism spectrum disorder(ASD), In our research, We describe here the derivation of the iPSC line SDQLCHi051-A from a patient with autism spectrum disorder (ASD) due to two heterozygote mutations (c.6728G > A and c.3876 T > G) in the CHD8 gene. The resulting iPSC line has typical iPSCs characteristics, including pluripotency and trilineage differentiation hallmarks.

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