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

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.

doi:10.1016/j.scr.2022.102664

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

Sik, Jung E.;
Hun, Kim J.;
Chang, M.-Y.;
Hong, W.;
Quan, Z.;
... Kim, D.-S.;
외 6명

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초록

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

키워드

CRISPR/Cas9; Genome editing; Induced pluripotent stem cell; X-linked adrenoleukodystrophy

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

저자: 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.

DOI: 10.1016/j.scr.2022.102664

발행일: 2022-03

유형: Article

저널명: Stem Cell Research

권: 59