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

• Published in: Stem cell research Vol. 59; p. 102664
• Main Authors: Sik Jung, Eul, Hun Kim, Ji, Chang, Mi-Yoon, Hong, Wonjun, Quan, Zhejiu, Hyun Kim, Seung, You, Seungkwon, Kim, Dae-Sung, Jang, Jiho, Lee, Sang-Hun, Henry Kim, Hyongbum, Chul Kang, Hoon
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01-03-2022; Elsevier
• Subjects: CRISPR/Cas9; Genome editing; Induced pluripotent stem cell; X-linked adrenoleukodystrophy; Induced pluripotent stem cell; Genome editing; CRISPR/Cas9; X-linked adrenoleukodystrophy
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2022.102664

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.