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Generation of induced pluripotent stem cell (iPSC) line from a 36-year-old Charcot-Marie-Tooth disease patient with GJB1 mutation (CMTX)
- Authors
- Son, Daryeon; Kang, Phil Jun; Yun, Wonjin; You, Seungkwon
- Issue Date
- 5월-2017
- Publisher
- ELSEVIER
- Citation
- STEM CELL RESEARCH, v.21, pp.9 - 12
- Indexed
- SCIE
SCOPUS
- Journal Title
- STEM CELL RESEARCH
- Volume
- 21
- Start Page
- 9
- End Page
- 12
- ISSN
- 1873-5061
- 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. (C) 2017 The Authors. Published by Elsevier B.V.
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Collections - Graduate School > Department of Biotechnology > 1. Journal Articles
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