Generation of the human induced pluripotent stem cell line (ZJUi005-A) from a patient with Pelizaeus-Merzbacher disease (PMD) carrying a novel hemizygous mutation in PLP1 gene

Bei Liu; Lang Chen; Jian Sun; Li Zhang; Min Chen; Yeqing Qian; Yanlin Wang; Kai Yan; Linxiao Hou; Yingzhi Huang; Dan Zhang; Yuming Xu; Jialing Yu; Jin Zhang; Minyue Dong

doi:10.1016/j.scr.2020.101791

Generation of the human induced pluripotent stem cell line (ZJUi005-A) from a patient with Pelizaeus-Merzbacher disease (PMD) carrying a novel hemizygous mutation in PLP1 gene

Stem Cell Res. 2020 May:45:101791. doi: 10.1016/j.scr.2020.101791. Epub 2020 Apr 19.

Authors

Bei Liu¹, Lang Chen², Jian Sun³, Li Zhang², Min Chen¹, Yeqing Qian¹, Yanlin Wang⁴, Kai Yan¹, Linxiao Hou⁵, Yingzhi Huang¹, Dan Zhang¹, Yuming Xu⁴, Jialing Yu¹, Jin Zhang⁶, Minyue Dong⁷

Affiliations

¹ Department of Reproductive Genetics, Women's Hospital Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China.
² Center for Stem Cell and Regenerative Medicine, Department of Basic Medical Sciences, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
³ Mudanjiang Medical University, Mudanjiang, Heilongjiang 157011, China.
⁴ Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
⁵ Center for Stem Cell and Regenerative Medicine, Department of Basic Medical Sciences & The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China.
⁶ Center for Stem Cell and Regenerative Medicine, Department of Basic Medical Sciences & The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China. Electronic address: [email protected].
⁷ Department of Reproductive Genetics, Women's Hospital Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China. Electronic address: [email protected].

PMID: 32402715
DOI: 10.1016/j.scr.2020.101791

Abstract

Pelizaeus-Merzbacher disease (PMD) is a rare X-linked leukodystrophy caused by mutations in the proteolipid protein 1 gene (PLP1) which is specifically expressed on the myelin sheath of oligodendrocytes. We established an induced pluripotent stem cell (iPSC) line (ZJUi005-A) from peripheral blood mononuclear cells of an 18-year-old male PMD patient with a novel hemizygous c.437T>C mutation in PLP1 gene using episomal reprogramming plasmids. The ZJUi005-A iPSC line carried the PLP1 mutation, expressed pluripotency markers, exhibited normal karyotype and showed differentiation potential in vitro.

Publication types

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

MeSH terms

Adolescent
Humans
Induced Pluripotent Stem Cells*
Leukocytes, Mononuclear
Male
Mutation
Myelin Proteolipid Protein / genetics
Pelizaeus-Merzbacher Disease* / genetics
Proteolipids

Substances

Myelin Proteolipid Protein
PLP1 protein, human
Proteolipids