Format

Send to

Choose Destination
Stem Cell Res. 2019 Aug;39:101496. doi: 10.1016/j.scr.2019.101496. Epub 2019 Jul 9.

An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation 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 inherited disorder caused by mutations in the NGLY1 gene encoding N-glycanase 1 that is a hydrolase for N-linked glycosylated proteins. An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a 16-year-old patient with homozygous mutation of p.R401X (c.1201 A>T) in the NGLY1 gene. Our iPSC model offers a useful resource to study the disease pathophysiology and to develop therapeutics for treatment of NGLY1 patients.

PMID:
31326749
DOI:
10.1016/j.scr.2019.101496
Free full text

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center