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

Summary

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 © 2018. Published by Elsevier B.V.

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 2018 Dec 5;34:101362
PubMed 30612078
DOI 10.1016/j.scr.2018.101362

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