Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9
Summary
NGLY1 deficiency is a rare recessive genetic disease caused by mutations in the NGLY1 gene which codes for N-glycanase 1 (NGLY1). Here, we report the generation of two gene corrected iPSC lines using a patient-derived iPSC line (NCATS-CL6103) that carried a homozygous p.R401X mutation in the NGLY1 gene. These lines contain either one (NCATS-CL6104) or two (NCATS-CL6105) CRISPR/Cas9 corrected alleles of NGLY1. This pair of NGLY1 mutation corrected iPSC lines can be used as a control for the NCATS-CL6103 which serves as a cell-based NGLY1 disease model for the study of the disease pathophysiology and evaluation of therapeutics under development. Published by Elsevier B.V.
| Authors | Pavlinov I, Farkhondeh A, Yang S, Xu M, Cheng YS, Beers J, Zou J, Liu C, Might M, Rodems S, Baumgärtel K, Zheng W |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Oct;56:102554 |
| PubMed | 34619643 |
| PubMed Central | PMC8647947 |
| DOI | 10.1016/j.scr.2021.102554 |