从一名ATP7B基因中存在纯合子Arg778Leu突变的威尔逊病患者身上生成诱导多能干细胞（iPSC）系（THSJTUi001-A）。
Generation of an induced pluripotent stem cell (iPSC) line (THSJTUi001-A) from a Wilson's disease patient harboring a homozygous Arg778Leu mutation in ATP7B gene.
作者信息
Wang Shu-Hong, Wang Xiao-Ping
机构信息
Department of Neurology, Tongren Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200050, China.
Department of Neurology, Tongren Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200050, China.
出版信息
Stem Cell Res. 2020 Dec;49:102050. doi: 10.1016/j.scr.2020.102050. Epub 2020 Oct 15.
PMID:33096383
Abstract
Induced pluripotent stem cell (iPSC) line, THSJTUi001-A, was generated from a 26-year-old Chinese male patient with Wilson's disease carrying a homozygous Arg778Leu mutation in ATP7B gene, using non-integrated episomal reprogramming vectors. This cell line had normal karyotype, expressed pluripotency markers and could differentiate into the three germ layers in vivo.
摘要
诱导多能干细胞系THSJTUi001 - A由一名26岁患有威尔逊病的中国男性患者的细胞生成，该患者的ATP7B基因存在纯合的Arg778Leu突变，采用非整合型附加体重编程载体。该细胞系具有正常的核型，表达多能性标志物，并能在体内分化为三个胚层。
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