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