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

Jiake Xu; Yong Fu; Weichun Xia; Jing He; Yan Zou; Wencong Ruan; Qi Lou; Ying Li; Jianwei Pan; Haifeng Li; Wei Chen

doi:10.1016/j.scr.2019.101411

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

Stem Cell Res. 2019 Apr:36:101411. doi: 10.1016/j.scr.2019.101411. Epub 2019 Feb 20.

Authors

Jiake Xu¹, Yong Fu², Weichun Xia¹, Jing He¹, Yan Zou³, Wencong Ruan⁴, Qi Lou⁵, Ying Li¹, Jianwei Pan⁶, Haifeng Li⁷, Wei Chen⁸

Affiliations

¹ The Children's Hospital Affiliated & Key Laboratory of Diagnosis and Treatment of Neonatal Diseases of Zhejiang Province, School of Medicine, Zhejiang University, Hangzhou 310052, China; Institute of Translational Medicine, School of Medicine, Zhejiang University, Hangzhou 310020, China.
² The Otolaryngological Department, The Children's Hospital, School of Medicine, Zhejiang University, China.
³ Zhejiang Center for Disease Control and Prevention, China.
⁴ The Pediatric Rehabilitation Department, The Children's Hospital, School of Medicine, Zhejiang University, Hangzhou 310052, China.
⁵ Experimental Animal Center, Zhejiang Academy of Medical Sciences, Hangzhou 310013, China.
⁶ Department of neurosurgery, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, China.
⁷ The Pediatric Rehabilitation Department, The Children's Hospital, School of Medicine, Zhejiang University, Hangzhou 310052, China. Electronic address: 6199005@zju.edu.cn.
⁸ The Children's Hospital Affiliated & Key Laboratory of Diagnosis and Treatment of Neonatal Diseases of Zhejiang Province, School of Medicine, Zhejiang University, Hangzhou 310052, China; Institute of Translational Medicine, School of Medicine, Zhejiang University, Hangzhou 310020, China; Department of Neurobiology, Key Laboratory of Medical Neurobiology of Ministry of Health of China, School of Medicine, Zhejiang University, Hangzhou 310058, China. Electronic address: chenwei001@zju.edu.cn.

PMID: 30807887
DOI: 10.1016/j.scr.2019.101411

Abstract

The 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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Differentiation
Cell Line*
Cellular Reprogramming Techniques
Charcot-Marie-Tooth Disease / genetics*
Child
Epithelial Cells
GTP Phosphohydrolases / genetics*
Humans
Induced Pluripotent Stem Cells*
Karyotype
Kruppel-Like Factor 4
Male
Mitochondrial Proteins / genetics*
Point Mutation

Substances

KLF4 protein, human
Kruppel-Like Factor 4
Mitochondrial Proteins
GTP Phosphohydrolases
MFN2 protein, human