Generation of a human Charcot-Marie-Tooth disease type 1B (CMT1B) iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ

Jiake Xu; Yanpeng Wang; Jing He; Weichun Xia; Yan Zou; Wencong Ruan; Qi Lou; Ying Li; Haifeng Li; Wei Chen

doi:10.1016/j.scr.2019.101407

Generation of a human Charcot-Marie-Tooth disease type 1B (CMT1B) iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ

Stem Cell Res. 2019 Mar:35:101407. doi: 10.1016/j.scr.2019.101407. Epub 2019 Feb 14.

Authors

Jiake Xu¹, Yanpeng Wang², Jing He¹, Weichun Xia¹, Yan Zou³, Wencong Ruan⁴, Qi Lou⁵, Ying Li¹, Haifeng Li⁶, Wei Chen⁷

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 Department of Gynecology, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, China.
³ Zhejiang Center for Disease Control and Prevention, China.
⁴ The Pediatric Rehabilitation Department, The Children's Hospital, School of Medicine, Zhejiang University, China.
⁵ Experimental Animal Center, Zhejiang Academy of Medical Sciences, Hangzhou 310013, China.
⁶ The Pediatric Rehabilitation Department, The Children's Hospital, School of Medicine, Zhejiang University, China. Electronic address: 6199005@zju.edu.cn.
⁷ 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: 30785048
DOI: 10.1016/j.scr.2019.101407

Abstract

The human iPSC cell line ZJUCHi001-A was established from renal epithelial cells present in urine (urinary cells) harvested from a 2-year-old Charcot-Marie-Tooth disease type 1B (CMT1B) patient carrying point mutation in MPZ (c.292C>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 for this cell line were all confirmed in this study.

Publication types

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

MeSH terms

Cell Line*
Cellular Reprogramming Techniques*
Charcot-Marie-Tooth Disease* / genetics
Charcot-Marie-Tooth Disease* / metabolism
Charcot-Marie-Tooth Disease* / pathology
Child, Preschool
Humans
Induced Pluripotent Stem Cells* / metabolism
Induced Pluripotent Stem Cells* / pathology
Kruppel-Like Factor 4
Male
Myelin P0 Protein* / genetics
Myelin P0 Protein* / metabolism
Point Mutation*

Substances

KLF4 protein, human
Kruppel-Like Factor 4
MPZ protein, human
Myelin P0 Protein