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Generation of mutation-corrected induced pluripotent stem cell lines derived from adrenoleukodystrophy patient by using homology directed repair
- Authors
- Jung, Eul Sik; Kim, JiHun; Chang, Mi-Yoon; Hong, Wonjun; Quan, Zhejiu; Kim, SeungHyun; You, Seungkwon; Kim, Dae-Sung; Jang, Jiho; Lee, Sang-Hun; Kim, Hyongbum Henry; Kang, HoonChul
- 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, pp.1 - 5
- Indexed
- SCIE
SCOPUS
- Journal Title
- Stem Cell Research
- Volume
- 59
- Start Page
- 1
- End Page
- 5
- 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.
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Collections - 서울 의과대학 > 서울 생화학·분자생물학교실 > 1. Journal Articles
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Related Researcher
- Lee, Sang Hun
- COLLEGE OF MEDICINE (DEPARTMENT OF BIOCHEMISTRY & MOLECULAR BIOLOGY)