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


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

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