| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5522660 | Stem Cell Research | 2017 | 4 Pages |
Abstract
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.
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Authors
Daryeon Son, Phil Jun Kang, Wonjin Yun, Seungkwon You,