Generation of ZJUi003-A, an induced pluripotent stem cell line from a Wilson's disease patient carrying a c.180_181del mutation in ATP7B gene

Jue Wang; Jun Su; Tingyu Gong; Tongyu Li; Jiaxi Shen; Hao Wang; Haiyang Xie; Lin Zhou; Shusen Zheng; Ping Liang

doi:10.1016/j.scr.2020.101873

Generation of ZJUi003-A, an induced pluripotent stem cell line from a Wilson's disease patient carrying a c.180_181del mutation in ATP7B gene

Stem Cell Res. 2020 Jul:46:101873. doi: 10.1016/j.scr.2020.101873. Epub 2020 Jun 6.

Authors

Jue Wang¹, Jun Su¹, Tingyu Gong², Tongyu Li¹, Jiaxi Shen¹, Hao Wang³, Haiyang Xie¹, Lin Zhou¹, Shusen Zheng⁴, Ping Liang⁵

Affiliations

¹ Key Laboratory of Combined Multi-organ Transplantation, Ministry of Public Health, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China; Institute of Translational Medicine, Zhejiang University, Hangzhou 310029, China.
² Department of Gynaecology, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China.
³ Department of Prenatal Diagnosis (Screening) Center, Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital), Hangzhou 310008, China.
⁴ Key Laboratory of Combined Multi-organ Transplantation, Ministry of Public Health, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China; Institute of Translational Medicine, Zhejiang University, Hangzhou 310029, China. Electronic address: [email protected].
⁵ Key Laboratory of Combined Multi-organ Transplantation, Ministry of Public Health, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China; Institute of Translational Medicine, Zhejiang University, Hangzhou 310029, China. Electronic address: [email protected].

PMID: 32534167
DOI: 10.1016/j.scr.2020.101873

Abstract

Wilson's disease (WD) is an inherited autosomal recessive disease, which is caused by the mutation of ATP7B gene encoding copper-transporting ATPase protein. The WD patients always suffer from the excessive copper deposition in the liver and other tissues because of the dysfunction of the copper-transporting ATPase protein. In this study, we generated a patient-specific induced pluripotent stem cell (iPSC) line (ZJUi003-A), which showed normal karyotype, expressed pluripotency markers and was capable to differentiate into three germ layers.

MeSH terms

Copper / metabolism
Copper-Transporting ATPases / genetics
Hepatolenticular Degeneration* / genetics
Humans
Induced Pluripotent Stem Cells* / metabolism
Mutation

Substances

Copper
ATP7B protein, human
Copper-Transporting ATPases