Generation of an induced pluripotent stem cell line HUSTTJi001-A from a Moyamoya disease patient with RNF213 gene mutation

被引:1
|
作者
Mao, Zhijuan [1 ]
Li, Yunjie [1 ]
Huang, Liangjiang [2 ]
Chen, Yunqiang [2 ]
Luo, Hongmei [2 ]
Zhang, Suming [1 ]
Chen, Hong [2 ,3 ]
机构
[1] Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Dept Neurol, Wuhan 430030, Peoples R China
[2] Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Dept Rehabil Med, Wuhan 430030, Peoples R China
[3] Key Lab Neural Injury & Funct Reconstruct Hubei P, Wuhan, Hubei, Peoples R China
基金
中国国家自然科学基金;
关键词
D O I
10.1016/j.scr.2021.102575
中图分类号
Q813 [细胞工程];
学科分类号
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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页数:3
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