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

doi:10.1016/j.scr.2017.03.006

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

Department of Biotechnology

Research output: Contribution to journal › Article › peer-review

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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 language	English
Pages (from-to)	9-12
Number of pages	4
Journal	Stem Cell Research
Volume	21
DOIs	https://doi.org/10.1016/j.scr.2017.03.006
Publication status	Published - 2017 May 1

ASJC Scopus subject areas

Developmental Biology
Cell Biology

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10.1016/j.scr.2017.03.006

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

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.",

author = "Daryeon Son and Kang, {Phil Jun} and Wonjin Yun and Seungkwon You",

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.",

year = "2017",

month = may,

day = "1",

doi = "10.1016/j.scr.2017.03.006",

language = "English",

volume = "21",

pages = "9--12",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

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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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JO - Stem Cell Research

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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)

Abstract

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