Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene


NGLY1 deficiency is a rare genetic disease caused by mutations in the NGLY1 gene that encodes N-glycanase 1. The disease phenotype in patient cells is unclear. A human induced pluripotent stem cell (iPSC) line was generated from skin dermal fibroblasts of a patient with NGLY1 deficiency that has compound heterozygous mutations of a p.Q208X variant (c.622C > T) in exon 4 and a p.G310G variant (c.930C > T) in exon 6 of the NGLY1 gene. This iPSC line offers a useful resource to study the disease pathophysiology and a cell-based model for drug development to treat NGLY1 deficiency. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Li R, Pradhan M, Xu M, Baskfield A, Farkhondeh A, Cheng YS, Beers J, Zou J, Liu C, Might M, Rodems S, Zheng W
Journal Stem cell research
Publication Date 2019 Jan;34:101362
PubMed 30612078
PubMed Central PMC6492929
DOI 10.1016/j.scr.2018.101362

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