从一名患有GJB1突变（CMTX）的36岁夏科-马里-图斯病患者身上生成诱导多能干细胞（iPSC）系。
Generation of induced pluripotent stem cell (iPSC) line from a 36-year-old Charcot-Marie-Tooth disease patient with GJB1 mutation (CMTX).
作者信息
Son Daryeon, Kang Phil Jun, Yun Wonjin, You Seungkwon
机构信息
Laboratory of Cell Function Regulation, Department of Biotechnology, College of Life Sciences and Biotechnology, Korea University, Seoul 136-701, Republic of Korea.
Laboratory of Cell Function Regulation, Department of Biotechnology, College of Life Sciences and Biotechnology, Korea University, Seoul 136-701, Republic of Korea.
出版信息
Stem Cell Res. 2017 May;21:9-12. doi: 10.1016/j.scr.2017.03.006. Epub 2017 Mar 15.
Charcot-Marie-Tooth disease (CMTX) is inherited neurological disorder caused by gap junction beta 1 gene (GJB1) mutation. We generated induced pluripotent stem cell (iPSC) line from 36-year-old CMTX disease patient by electroporation of skin fibroblasts with episomal vectors encoding OCT4, SOX2, KLF4, L-MYC, LIN28 and shRNA-p53. Established iPSCs expressed various pluripotency markers, had differentiation potential of three germ layers in vitro, had normal karyotype and retained GJB1 mutation. This CMT patient-derived iPSC line could be useful in vitro tool for CMTX research as disease modeling and drug development.
夏科-马里-图思病（CMTX）是一种由间隙连接蛋白β1基因（GJB1）突变引起的遗传性神经疾病。我们通过用编码OCT4、SOX2、KLF4、L-MYC、LIN28和shRNA-p53的游离载体电穿孔36岁CMTX病患者的皮肤成纤维细胞，生成了诱导多能干细胞（iPSC）系。建立的iPSC表达多种多能性标志物，在体外具有三个胚层的分化潜能，具有正常核型并保留GJB1突变。这种源自CMT患者的iPSC系可作为用于CMTX研究的体外工具，用于疾病建模和药物开发。
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