Mao Zhijuan, Li Yunjie, Huang Liangjiang, Chen Yunqiang, Luo Hongmei, Zhang Suming, Chen Hong
Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, PR China.
Department of Rehabilitation Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, PR China.
Stem Cell Res. 2021 Dec;57:102575. doi: 10.1016/j.scr.2021.102575. Epub 2021 Oct 19.
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.
烟雾病（MMD）是一种特发性慢性狭窄闭塞性脑血管疾病。基因研究确定RNF213是烟雾病的主要易感基因。在本研究中，从一名携带RNF213 p.R4810K突变的烟雾病患者获取外周血单个核细胞（PBMC），然后通过转染非整合型附加体载体将PBMC重编程为诱导多能干细胞（iPSC）。该iPSC系显示多能性标志物，具有体外分化为三个胚层的潜力，对于阐明烟雾病的潜在细胞机制、选择治疗靶点和开发药物具有重要价值。
