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Generation of mutation-corrected induced pluripotent stem cell lines derived from adrenoleukodystrophy patient by using homology directed repair

Authors
Sik, Jung E.Hun, Kim J.Chang, M.-Y.Hong, W.Quan, Z.Hyun, Kim S.You, S.Kim, D.-S.Jang, J.Lee, S.-H.Henry, Kim H.Chul, Kang H.
Issue Date
3월-2022
Publisher
Elsevier B.V.
Keywords
CRISPR/Cas9; Genome editing; Induced pluripotent stem cell; X-linked adrenoleukodystrophy
Citation
Stem Cell Research, v.59
Indexed
SCIE
SCOPUS
Journal Title
Stem Cell Research
Volume
59
URI
https://scholar.korea.ac.kr/handle/2021.sw.korea/136601
DOI
10.1016/j.scr.2022.102664
ISSN
1873-5061
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. © 2022 The Authors
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