从患有MPZ突变的夏科-马里-图斯病患者（CMT1B）中诱导产生多能干细胞（iPSC）系。
Generation of induced pluripotent stem cell (iPSC) line from Charcot-Marie-Tooth disease patient with MPZ mutation (CMT1B).
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 Oct;24:5-7. doi: 10.1016/j.scr.2017.08.002. Epub 2017 Aug 5.
Charcot-Marie-Tooth disease (CMT1B) is an inherited neurological disorder caused by mutation of the myelin protein zero (MPZ) gene. We generated an induced pluripotent stem cell (iPSC) line from an 81-year-old patient with CMT1B by electroporating of lymphoblastoid cell lines with episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28, and p53-targeting shRNA. The established iPSCs expressed various pluripotency markers, demonstrated the potential to differentiate into cells of the three germ layers in vitro, had a normal karyotype and retained the MPZ mutation.
夏科-马里-图斯病（CMT1B）是一种由髓磷脂蛋白零（MPZ）基因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和靶向p53的短发夹RNA的附加体质粒电穿孔淋巴母细胞系，从一名81岁的CMT1B患者中生成了诱导多能干细胞（iPSC）系。所建立的诱导多能干细胞表达多种多能性标志物，在体外表现出分化为三个胚层细胞的潜力，具有正常的核型并保留了MPZ突变。
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