An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene
Summary
NGLY1 deficiency is a rare disorder caused by mutations in the NGLY1 gene which codes for the highly conserved N-glycanase1 (NGLY1). This enzyme functions in cytosolic deglycosylation of N- linked glycoproteins. An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a 2-year-old patient carrying compound heterozygous mutations, p.R390P and p.L318P in the NGLY1 gene. This cell-based iPSC disease model provides a resource to study disease pathophysiology and to develop a cell-based disease model for drug development for NGLY1 patients. Published by Elsevier B.V.
| Authors | Pradhan M, Farkhondeh A, Cheng YS, Xu M, Beers J, Zou J, Liu C, Might M, Rodems S, Baumgärtel K, Zheng W |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Jul;54:102400 |
| PubMed | 34051448 |
| PubMed Central | PMC8362228 |
| DOI | 10.1016/j.scr.2021.102400 |