Generation of an induced pluripotent stem cell (iPSC) line from a diabetic patient with glucagon receptor (GCGR) p.W83X mutation

从患有胰高血糖素受体 (GCGR) p.W83X 突变的糖尿病患者中生成诱导性多能干细胞 (iPSC) 系

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作者:Yang Liu, Yang Liu, Yunbo Jia, Jing Lv, Dan Sun, Yalei Yin, Nan Liu, Benli Su, Guangwei Sun

Abstract

Induced pluripotent stem cell (iPSC) line, SJHi001-A, was generated from a diabetic patient carrying a heterozygous c.G248A mutation in GCGR gene that generated the p.W83X. The PBMCs from her father (no diabetes and no mutation site) were also prepared into iPSC (SJHi002-A) as a control. Both two cell lines had normal karyotype, expressed pluripotency markers and could differentiate into the three germ layers in vivo.

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