Generation of mutation-corrected induced pluripotent stem cell lines derived from adrenoleukodystrophy patient by
Eul Sik Jung1, Ji Hun Kim2, Mi-Yoon Chang3
1Department of Pharmacology, Yonsei University College of Medicine, Seoul, Republic of Korea.
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.
More Related Videos
Related Concept Videos
iPS Cell Differentiation
Induced Pluripotent Stem Cells
Somatic...
EPS and iPS Cells in Disease Research


