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


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. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Mao Z, Li Y, Huang L, Chen Y, Luo H, Zhang S, Chen H
Journal Stem cell research
Publication Date 2021 Oct 19;57:102575
PubMed 34749017
DOI 10.1016/j.scr.2021.102575

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