生物
诱导多能干细胞
外周血单个核细胞
突变
胚芽层
基因
烟雾病
遗传学
转染
癌症研究
胚胎干细胞
体外
内科学
医学
作者
Zhijuan Mao,Yunjie Li,Liangjiang Huang,Yunqiang Chen,Hongmei Luo,Suming Zhang,Hong Chen
标识
DOI:10.1016/j.scr.2021.102575
摘要
Moyamoya disease (MMD) is an idiopathic and chronic steno-occlusive cerebrovascular disease. Genetic studies identified RNF213 as a principal susceptibility gene of MMD. In this study, peripheral blood mononuclear cells (PBMCs) were obtained from an MMD patient with RNF213 p. R4810K mutations, and the PBMCs were then reprogrammed to induced pluripotent stem cells (iPSCs) by the transfection of non-integrated episomal vectors. The iPSC line shows pluripotency markers and has the potential for in vitro differentiation into three germ layers, and will be valuable for elucidating the underlying cellular mechanisms of MMD, selecting therapeutic targets, and developing drugs.
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