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

Eul Sik Jung, Ji Hun Kim, Mi Yoon Chang, Wonjun Hong, Zhejiu Quan, Seung Hyun Kim, Seungkwon You, Dae Sung Kim, Jiho Jang, Sang Hun Lee, Hyongbum Henry Kim, Hoon Chul Kang

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Article number102664
JournalStem Cell Research
Volume59
DOIs
Publication statusPublished - 2022 Mar

Keywords

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

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

Fingerprint

Dive into the research topics of 'Generation of mutation-corrected induced pluripotent stem cell lines derived from adrenoleukodystrophy patient by using homology directed repair'. Together they form a unique fingerprint.

Cite this