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

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

Research output: Contribution to journalArticle

Abstract

Charcot-Marie-Tooth disease (CMT1B) is an inherited neurological disorder caused by mutation of the myelin protein zero (MPZ) gene. We generated an induced pluripotent stem cell (iPSC) line from an 81-year-old patient with CMT1B by electroporating of lymphoblastoid cell lines with episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28, and p53-targeting shRNA. The established iPSCs expressed various pluripotency markers, demonstrated the potential to differentiate into cells of the three germ layers in vitro, had a normal karyotype and retained the MPZ mutation.

Original languageEnglish
Pages (from-to)5-7
Number of pages3
JournalStem Cell Research
Volume24
DOIs
Publication statusPublished - 2017 Oct 1

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Myelin P0 Protein
Charcot-Marie-Tooth Disease
Induced Pluripotent Stem Cells
Cell Line
Germ Layers
Mutation
Nervous System Diseases
Karyotype
Small Interfering RNA
Plasmids
Genes

ASJC Scopus subject areas

  • Medicine(all)
  • Developmental Biology
  • Cell Biology

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Generation of induced pluripotent stem cell (iPSC) line from Charcot-Marie-Tooth disease patient with MPZ mutation (CMT1B). / Son, Daryeon; Kang, Phil Jun; Yun, Wonjin; You, Seungkwon.

In: Stem Cell Research, Vol. 24, 01.10.2017, p. 5-7.

Research output: Contribution to journalArticle

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