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
Summary
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 |