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 journalArticlepeer-review

    2 Citations (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

    Bibliographical note

    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.

    ASJC Scopus subject areas

    • Developmental Biology
    • Cell Biology

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