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|