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

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

Author information

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.

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.

PMID:
30785048
DOI:
10.1016/j.scr.2019.101407
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