Generation of induced pluripotent stem cell (iPSC) line from Charcot-Marie-Tooth disease patient with MPZ mutation (CMT1B)
Summary
Charcot-Marie-Tooth disease (CMT1B) is an inherited neurological disorder caused by mutation of the myelin protein zero (MPZ) gene. We generated an induced pluripotent stem cell (iPSC) line from an 81-year-old patient with CMT1B by electroporating of lymphoblastoid cell lines with episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28, and p53-targeting shRNA. The established iPSCs expressed various pluripotency markers, demonstrated the potential to differentiate into cells of the three germ layers in vitro, had a normal karyotype and retained the MPZ mutation. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Son D, Kang PJ, Yun W, You S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2017 Oct;24:5-7 |
| PubMed | 29034895 |
| DOI | 10.1016/j.scr.2017.08.002 |