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

Zhijuan Mao; Yunjie Li; Liangjiang Huang; Yunqiang Chen; Hongmei Luo; Suming Zhang; Hong Chen

doi:10.1016/j.scr.2021.102575

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

Stem Cell Res. 2021 Dec:57:102575. doi: 10.1016/j.scr.2021.102575. Epub 2021 Oct 19.

Authors

Zhijuan Mao¹, Yunjie Li¹, Liangjiang Huang², Yunqiang Chen², Hongmei Luo², Suming Zhang¹, Hong Chen³

Affiliations

¹ Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, PR China.
² Department of Rehabilitation Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, PR China.
³ Department of Rehabilitation Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, PR China; Key Laboratory of Neural Injury and Functional Reconstruction of Hubei Province, PR China. Electronic address: [email protected].

PMID: 34749017
DOI: 10.1016/j.scr.2021.102575

Abstract

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.