Journal
STEM CELL RESEARCH
Volume 56, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2021.102554
Keywords
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Funding
- Intramural Research Program of the National Center for Advancing Translational Sciences, National Institutes of Health
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Two gene-corrected iPSC lines were generated using a patient-derived iPSC line with a homozygous p.R401X mutation in the NGLY1 gene, serving as control for a cell-based NGLY1 disease model and aiding in the study of disease pathophysiology and evaluation of therapeutics in development.
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.
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