TY - JOUR
T1 - Generation of induced pluripotent stem cell (iPSC) line from a 36-year-old Charcot-Marie-Tooth disease patient with GJB1 mutation (CMTX)
AU - Son, Daryeon
AU - Kang, Phil Jun
AU - Yun, Wonjin
AU - You, Seungkwon
N1 - Funding Information:
This work was supported by the Bio & Medical Technology Development Program of the National Research Foundation of Korea funded by the Korea Ministry of Science, ICT & Future Planning (MSIP) NRF-2015M3A9B4071074 and School of Life Sciences and Biotechnology for BK21 PLUS, Korea University.
PY - 2017/5/1
Y1 - 2017/5/1
N2 - 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.
AB - 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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U2 - 10.1016/j.scr.2017.03.006
DO - 10.1016/j.scr.2017.03.006
M3 - Article
C2 - 28677541
AN - SCOPUS:85016156421
SN - 1873-5061
VL - 21
SP - 9
EP - 12
JO - Stem Cell Research
JF - Stem Cell Research
ER -