Journal
STEM CELL RESEARCH
Volume 39, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2019.101496
Keywords
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Funding
- Intramural Research Program of the National Center for Advancing Translational Sciences, National Institutes of Health
- Retrophin
- CRADA
- NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES [ZIATR000018] Funding Source: NIH RePORTER
- NATIONAL HEART, LUNG, AND BLOOD INSTITUTE [ZICHL006145] Funding Source: NIH RePORTER
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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.
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