Article
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 research - 1 May 2020
Liu Bei, Chen Lang, Sun Jian, Zhang Li, Chen Min, Qian Yeqing, Wang Yanlin, Yan Kai, Hou Linxiao, Huang Yingzhi, Zhang Dan, Xu Yuming, Yu Jialing, Zhang Jin, Dong Minyue
Abstract excerpt
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...
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