Generation of induced pluripotent stem cell line, ZJUCHi002-A, from Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of c.752C>T in MFN2

Publication date: Available online 20 February 2019Source: Stem Cell ResearchAuthor(s): Jiake Xu, Yong Fu, Weichun Xia, Jing He, Yan Zou, Wencong Ruan, Qi Lou, Ying Li, Jianwei Pan, Haifeng Li, Wei ChenAbstractThe human induced pluripotent stem cell (iPSC) line ZJUCHi002-A was established from renal epithelial cells present in urine (urinary cells) collected from an 8-year-old Charcot-Marie-Tooth disease type 2A (CMT2A) patient carrying point mutation in MFN2 (c.752C > T). Urinary cells were reprogrammed by retrovirus vectors containing reprogramming factors: OCT4, SOX2, KLF4 and c-MYC. The pluripotency, capacity of differentiation into 3 germ layers, silence of reprogramming factors and normal karyotype were all confirmed in this study.
Source: Stem Cell Research - Category: Stem Cells Source Type: research