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Stem Cell Res. 2019 Jan;34:101362. doi: 10.1016/j.scr.2018.101362. Epub 2018 Dec 5.

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.

Author information

1
National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
2
iPSC core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
3
Transgenic Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
4
University of Alabama at Birmingham, Birmingham, AL, USA.
5
Retrophin, Inc., San Diego, CA, USA.
6
National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: wzheng@mail.nih.gov.

Abstract

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.

PMID:
30612078
PMCID:
PMC6492929
DOI:
10.1016/j.scr.2018.101362
[Indexed for MEDLINE]
Free PMC Article

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