Zhang Bei, Wang Yishu, Peng Jing, Hao Yong, Guan Yangtai
Department of Neurology, Renji Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai 20072, PR China.
Department of Neurology, Renji Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai 20072, PR China.
Stem Cell Res. 2020 Apr;44:101711. doi: 10.1016/j.scr.2020.101711. Epub 2020 Jan 21.
A 48-year-old female epilepsy patient of Han Chinese genetic descent carrying heterozygous mutations in PIK3R2 donated her peripheral blood mononuclear cells (PBMCs). The PBMCs were reprogrammed by the nonintegrating vector system with human OKSM transcription factors. The generated iPSCs contained congenital mutations in an exon of PIK3R2 and expressed endogenous pluripotency markers. They had a normal karyotype and were able to differentiate into all three germ layers. This new iPSC line will contribute to a better understanding of the pathology of epilepsy, enabling the identification of early biomarkers and the screening of small molecule drugs.
一名48岁具有汉族遗传血统的女性癫痫患者，其PIK3R2基因携带杂合突变，捐赠了她的外周血单个核细胞（PBMC）。这些PBMC通过携带人类OKSM转录因子的非整合载体系统进行重编程。所产生的诱导多能干细胞（iPSC）在PIK3R2的一个外显子中含有先天性突变，并表达内源性多能性标志物。它们具有正常的核型，能够分化为所有三个胚层。这个新的iPSC系将有助于更好地理解癫痫的病理学，从而能够识别早期生物标志物并筛选小分子药物。
