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Generation of an IPSC line from a patient with hypertrophic cardiomyopathy carrying a mutation in MYH6 gene
Stem Cell Research ( IF 0.8 ) Pub Date : 2020-12-24 , DOI: 10.1016/j.scr.2020.102138 Lu Wang 1 , Xiaowei Li 1 , Wanrong Fu 1 , Shuai Zhang 2 , Wenting Du 1 , Jing Zhao 1 , Mengduan Liu 1 , Mengyu Wang 1 , Yangyang Liu 1 , Liang Hu 1 , Zhongren Ding 1 , Ling Li 3 , Xiaoyan Zhao 1 , Jianzeng Dong 4
中文翻译：
从携带 MYH6 基因突变的肥厚型心肌病患者中产生 IPSC 系
更新日期：2020-12-30
Stem Cell Research ( IF 0.8 ) Pub Date : 2020-12-24 , DOI: 10.1016/j.scr.2020.102138 Lu Wang 1 , Xiaowei Li 1 , Wanrong Fu 1 , Shuai Zhang 2 , Wenting Du 1 , Jing Zhao 1 , Mengduan Liu 1 , Mengyu Wang 1 , Yangyang Liu 1 , Liang Hu 1 , Zhongren Ding 1 , Ling Li 3 , Xiaoyan Zhao 1 , Jianzeng Dong 4
Affiliation
An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a 41-year-old male patient with hypertrophic cardiomyopathy who carries a G3755A heterozygote mutation in the MYH6 gene. The generated iPSC line expressed pluripotency markers, exhibited a normal karyotype, presented the specific mutation, and demonstrated differentiation potential into three germ layers in vitro.
中文翻译：
从携带 MYH6 基因突变的肥厚型心肌病患者中产生 IPSC 系
诱导多能干细胞 (iPSC) 系是从一名 41 岁肥厚型心肌病男性患者的外周血单核细胞 (PBMC) 中产生的，该患者的MYH6基因携带 G3755A 杂合子突变。生成的 iPSC 系表达多能性标记，表现出正常的核型，呈现特异性突变，并在体外表现出分化为三个胚层的潜力。
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