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

Stem Cell Research (May 2020)

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

Affiliations

Bei Liu: Department of Reproductive Genetics, Women's Hospital Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China
Lang Chen: Center for Stem Cell and Regenerative Medicine, Department of Basic Medical Sciences, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China
Jian Sun: Mudanjiang Medical University, Mudanjiang, Heilongjiang 157011, China
Li Zhang: Center for Stem Cell and Regenerative Medicine, Department of Basic Medical Sciences, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China
Min Chen: Department of Reproductive Genetics, Women's Hospital Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China
Yeqing Qian: Department of Reproductive Genetics, Women's Hospital Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China
Yanlin Wang: Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China
Kai Yan: Department of Reproductive Genetics, Women's Hospital Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China
Linxiao Hou: 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
Yingzhi Huang: Department of Reproductive Genetics, Women's Hospital Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China
Dan Zhang: Department of Reproductive Genetics, Women's Hospital Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China
Yuming Xu: Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China
Jialing Yu: Department of Reproductive Genetics, Women's Hospital Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China
Jin Zhang: 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; Corresponding authors.
Minyue Dong: Department of Reproductive Genetics, Women's Hospital Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China; Corresponding authors.

Journal volume & issue: Vol. 45

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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