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

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

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Charcot-Marie-Tooth Disease
Induced Pluripotent Stem Cells
Gap Junctions
Cell Line
Germ Layers
Mutation
Electroporation
Drug Design
Differentiation Antigens
Nervous System Diseases
Karyotype
Small Interfering RNA
Genes
Fibroblasts
Skin
Research
In Vitro Techniques

ASJC Scopus subject areas

  • Medicine(all)
  • Developmental Biology
  • Cell Biology

Cite this

Generation of induced pluripotent stem cell (iPSC) line from a 36-year-old Charcot-Marie-Tooth disease patient with GJB1 mutation (CMTX). / Son, Daryeon; Kang, Phil Jun; Yun, Wonjin; You, Seungkwon.

In: Stem Cell Research, Vol. 21, 01.05.2017, p. 9-12.

Research output: Contribution to journalArticle

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