Generation of an isogenic gene-corrected iPSC line (OGHFUi001-A-1) from a type 1 early infantile epileptic encephalopathy (EIEE1) patient with a hemizygous R330L mutation in the ARX gene
Summary
Type 1 early infantile epileptic encephalopathy (EIEE1) is a rare X-link neurodevelopmental disorder caused by mutations in the ARX gene. The mechanism remains unclear due to the lack of cellular models for the disease. We previously have generated an iPSC line (OGHFUi001-A) from a male EIEE1 patient with a hemizygous R330L mutation in the ARX gene. Here we corrected the R330L mutation genetically using CRISPR/Cas9 technology to generate an isogenic control, which was an ideal control to investigate the pathogenesis of the mutation in this disease. Copyright © 2022. Published by Elsevier B.V.
| Authors | Gong X, Zheng Z, Yang T, Zheng H, Xiao X, Jia N |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Apr;60:102693 |
| PubMed | 35121198 |
| DOI | 10.1016/j.scr.2022.102693 |