An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene


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

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