Cited 2 times in
Generation of mutation-corrected induced pluripotent stem cell lines derived from adrenoleukodystrophy patient by using homology directed repair
DC Field | Value | Language |
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dc.contributor.author | 강훈철 | - |
dc.contributor.author | 김형범 | - |
dc.contributor.author | 장지호 | - |
dc.date.accessioned | 2022-03-11T05:57:43Z | - |
dc.date.available | 2022-03-11T05:57:43Z | - |
dc.date.issued | 2022-03 | - |
dc.identifier.issn | 1873-5061 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/187881 | - |
dc.description.abstract | X-linked adrenoleukodystrophy (ALD) caused by the ABCD1 mutation, is the most common inherited peroxisomal disease. Previously, we generated an ALD patient-derived SCHi001-A iPSC model. In this study, we have performed the first genome editing of ALD patient-derived SCHi001-A iPSCs using homology-directed repair (HDR). The mutation site, c.1534G > A [GenBank: NM_000033.4], was corrected by introducing ssODN and the CRISPR/Cas9 system. The cell line exhibited normal iPSC plulipotency marker expression following genome editing. Mutation-corrected iPSCs from SCHi001-A iPSC line can be used in research into the pathophysiology of and therapeutics for ALD. | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.language | English | - |
dc.publisher | Elsevier | - |
dc.relation.isPartOf | STEM CELL RESEARCH | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | Generation of mutation-corrected induced pluripotent stem cell lines derived from adrenoleukodystrophy patient by using homology directed repair | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아과학교실) | - |
dc.contributor.googleauthor | Eul Sik Jung | - |
dc.contributor.googleauthor | Ji Hun Kim | - |
dc.contributor.googleauthor | Mi-Yoon Chang | - |
dc.contributor.googleauthor | Wonjun Hong | - |
dc.contributor.googleauthor | Zhejiu Quan | - |
dc.contributor.googleauthor | Seung Hyun Kim | - |
dc.contributor.googleauthor | Seungkwon You | - |
dc.contributor.googleauthor | Dae-Sung Kim | - |
dc.contributor.googleauthor | Jiho Jang | - |
dc.contributor.googleauthor | Sang-Hun Lee | - |
dc.contributor.googleauthor | Hyongbum Henry Kim | - |
dc.contributor.googleauthor | Hoon Chul Kang | - |
dc.identifier.doi | 10.1016/j.scr.2022.102664 | - |
dc.contributor.localId | A00102 | - |
dc.contributor.localId | A01148 | - |
dc.relation.journalcode | J02680 | - |
dc.identifier.eissn | 1876-7753 | - |
dc.identifier.pmid | 35042083 | - |
dc.subject.keyword | CRISPR/Cas9 | - |
dc.subject.keyword | Genome editing | - |
dc.subject.keyword | Induced pluripotent stem cell | - |
dc.subject.keyword | X-linked adrenoleukodystrophy | - |
dc.contributor.alternativeName | Kang, Hoon Chul | - |
dc.contributor.affiliatedAuthor | 강훈철 | - |
dc.contributor.affiliatedAuthor | 김형범 | - |
dc.citation.volume | 59 | - |
dc.citation.startPage | 102664 | - |
dc.identifier.bibliographicCitation | STEM CELL RESEARCH, Vol.59 : 102664, 2022-03 | - |
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