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


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. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Liu B, Chen L, Sun J, Zhang L, Chen M, Qian Y, Wang Y, Yan K, Hou L, Huang Y, Zhang D, Xu Y, Yu J, Zhang J, Dong M
Journal Stem cell research
Publication Date 2020 May;45:101791
PubMed 32402715
DOI 10.1016/j.scr.2020.101791

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