从一名患有与集落刺激因子1受体（CSF1R）相关的白质脑病且CSF1R基因携带杂合p.Ile794Thr突变的患者中生成人诱导多能干细胞JTUi007-A。
Generation of an human induced pluripotent stem cell JTUi007-A from a patient with CSF1R-related leukoencephalopathy carrying heterozygous p.Ile794Thr mutation in CSF1R gene.
作者信息
Wu Jingying, Tian Wotu, Zhan Feixia, Luan Xinghua, Cao Li
机构信息
Department of Neurology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.
Department of Neurology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.
出版信息
Stem Cell Res. 2021 Dec;57:102593. doi: 10.1016/j.scr.2021.102593. Epub 2021 Nov 11.
CSF1R-related leukoencephalopathy is an adult-onset monogenic microgliopathy causing leukoencephalopathy with high mortality and disabiliity. Here, an human induced pluripotent stem cell (hiPSC) line was generated from peripheral blood mononuclear cells of a 46-year-old female patient carrying heterozygous c.2381 T>C/p.Ile794Thr mutation with episomal plasmids encoding hOCT4, hSOX2, hNANOG, hLIN28, hKLF4 and hMYC. With normal karyotype, pluripotent markers expression and the capability to differentiate into the three germ layers in vivo, the hiPSC line is a promising tool for further study the pathogenic mechanism and potential therapeutic targets of this disease.
CSF1R相关白质脑病是一种成年发病的单基因小胶质细胞病，可导致白质脑病，死亡率和致残率高。在此，我们从一名46岁女性患者的外周血单个核细胞中，利用携带杂合c.2381 T>C/p.Ile794Thr突变的附加体质粒编码hOCT4、hSOX2、hNANOG、hLIN28、hKLF4和hMYC，生成了一条人诱导多能干细胞（hiPSC）系。该hiPSC系具有正常的核型、多能性标志物表达以及在体内分化为三个胚层的能力，是进一步研究该疾病致病机制和潜在治疗靶点的有前景的工具。
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