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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).

Stem cell research - 1 May 2017

Son Daryeon, Kang Phil Jun, Yun Wonjin, You Seungkwon

Abstract excerpt

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...

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Identifiers

PMID: 28677541
DOI: 10.1016/j.scr.2017.03.006

Genes

GJB1
KLF4
MYC
SOX2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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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).PMID 28677541Read ↗

Generation of induced pluripotent stem cell (iPSC) line from Charcot-Marie-Tooth disease patient with MPZ mutation (CMT1B).Semantic proximity Read ↗

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