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.
Original language | English |
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Article number | 102664 |
Journal | Stem Cell Research |
Volume | 59 |
DOIs | |
Publication status | Published - 2022 Mar |
Bibliographical note
Publisher Copyright:© 2022 The Authors
Keywords
- CRISPR/Cas9
- Genome editing
- Induced pluripotent stem cell
- X-linked adrenoleukodystrophy
ASJC Scopus subject areas
- Developmental Biology
- Cell Biology