Generation of induced pluripotent stem cell (iPSC) line from a 36-year-old Charcot-Marie-Tooth disease patient with GJB1 mutation (CMTX)

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

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.

Original languageEnglish
Pages (from-to)9-12
Number of pages4
JournalStem Cell Research
Volume21
DOIs
Publication statusPublished - 2017 May 1

ASJC Scopus subject areas

  • Medicine(all)
  • Developmental Biology
  • Cell Biology

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