Generation of induced pluripotent stem cell (iPSC) line from a 36-year-old Charcot-Marie-Tooth disease patient with GJB1 mutation (CMTX)
DC Field | Value | Language |
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dc.contributor.author | Son, Daryeon | - |
dc.contributor.author | Kang, Phil Jun | - |
dc.contributor.author | Yun, Wonjin | - |
dc.contributor.author | You, Seungkwon | - |
dc.date.accessioned | 2021-09-03T06:47:33Z | - |
dc.date.available | 2021-09-03T06:47:33Z | - |
dc.date.created | 2021-06-16 | - |
dc.date.issued | 2017-05 | - |
dc.identifier.issn | 1873-5061 | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/83624 | - |
dc.description.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. (C) 2017 The Authors. Published by Elsevier B.V. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | ELSEVIER | - |
dc.title | Generation of induced pluripotent stem cell (iPSC) line from a 36-year-old Charcot-Marie-Tooth disease patient with GJB1 mutation (CMTX) | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Kang, Phil Jun | - |
dc.contributor.affiliatedAuthor | You, Seungkwon | - |
dc.identifier.doi | 10.1016/j.scr.2017.03.006 | - |
dc.identifier.scopusid | 2-s2.0-85016156421 | - |
dc.identifier.wosid | 000402476600003 | - |
dc.identifier.bibliographicCitation | STEM CELL RESEARCH, v.21, pp.9 - 12 | - |
dc.relation.isPartOf | STEM CELL RESEARCH | - |
dc.citation.title | STEM CELL RESEARCH | - |
dc.citation.volume | 21 | - |
dc.citation.startPage | 9 | - |
dc.citation.endPage | 12 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Cell Biology | - |
dc.relation.journalResearchArea | Biotechnology & Applied Microbiology | - |
dc.relation.journalWebOfScienceCategory | Cell & Tissue Engineering | - |
dc.relation.journalWebOfScienceCategory | Biotechnology & Applied Microbiology | - |
dc.relation.journalWebOfScienceCategory | Cell Biology | - |
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