Generation of induced pluripotent stem cell (iPSC) line from a 36-year-old Charcot-Marie-Tooth disease patient with GJB1 mutation (CMTX)
Summary
Charcot-Marie-Tooth disease (CMTX) is inherited neurological disorder caused by gap junction beta 1 gene (GJB1) mutation. We generated induced pluripotent stem cell (iPSC) line from 36-year-old CMTX disease patient by electroporation of skin fibroblasts with episomal vectors encoding OCT4, SOX2, KLF4, L-MYC, LIN28 and shRNA-p53. Established iPSCs expressed various pluripotency markers, had differentiation potential of three germ layers in vitro, had normal karyotype and retained GJB1 mutation. This CMT patient-derived iPSC line could be useful in vitro tool for CMTX research as disease modeling and drug development. 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 May;21:9-12 |
| PubMed | 28677541 |
| DOI | 10.1016/j.scr.2017.03.006 |