Generation of an induced pluripotent stem cell line HUSTTJi001-A from a Moyamoya disease patient with RNF213 gene mutation
Generation of an induced pluripotent stem cell line HUSTTJi001-A from a Moyamoya disease patient with RNF213 gene mutation
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从具有 RNF213 基因突变的烟雾病患者中产生诱导多能干细胞系 HUSTTJi001-A
DOI：
10.1016/j.scr.2021.102575
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发表时间：
2021
影响因子：
1.2
通讯作者：
HONG CHEN
中科院分区：
文献类型：
--
作者：
Zhijuan Mao;Yunjie Li;Liangjiang Huang;Yunqiang Chen;Hongmei Luo;Suming Zhang;HONG CHEN
烟雾病（MMD）是一种特发性慢性狭窄闭塞性脑血管病。遗传学研究表明RNF213是MMD的主要易感基因。在本研究中，从具有RNF213 p.R4810K突变的MMD患者获得外周血单核细胞（PBMC），然后通过转染非整合的附加型载体将PBMC重编程为诱导多能干细胞（iPSC）。iPSC细胞系显示出多能性标记，并具有体外分化为三个胚层的潜力，对于阐明MMD的潜在细胞机制、选择治疗靶点和开发药物将是有价值的。
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.