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


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. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Sik Jung E, Hun Kim J, Chang MY, Hong W, Quan Z, Hyun Kim S, You S, Kim DS, Jang J, Lee SH, Henry Kim H, Chul Kang H
Journal Stem cell research
Publication Date 2022 Mar;59:102664
PubMed 35042083
DOI 10.1016/j.scr.2022.102664

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