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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
- Mar-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
- 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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Collections - Graduate School > Department of Biotechnology > 1. Journal Articles
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