Rare NGLY1 Mutation Samples Now Available from Coriell Institute for Medical Research


The Coriell Institute for Medical Research is proud to announce the release of new samples representing N-glycanase deficiency, caused by a mutation on the NGLY 1 gene, also known as Congenital Disorder of Deglycosylation (CDDG). These extraordinarily well characterized samples come from the National Human Genome Research Institute (NHGRI) Undiagnosed Disease Program (UDP) and will be distributed from the National Institute for General Medical Sciences (NIGMS) Human Genetic Cell Repository (HGCR) housed at Coriell.

These new samples bring the total number of samples representing this NGLY1 mutation in Coriell’s catalog to 51. Coriell previously had 16 cell lines available for researchers.

NGLY1 deficiency is a newly-diagnosed and devastating inherited metabolic disease that normally presents itself in childhood. Located on chromosome 3, the NGLY1 gene is responsible for producing an enzyme (N-glycanase 1) which removes chains of sugar molecules from proteins, breaking them down in a process called deglycosylation. With this NGLY1 mutation, the production of this enzyme is impaired, causing the buildup of abnormal proteins.

Biological systems across the body are affected by CDDG, and symptoms include serious problems with liver function, delayed development, and an inability to produce tears when crying.

“It’s an honor to be trusted with samples as important as these,” said Deborah Requesens, PhD, Co-Principal Investigator of the NIGMS Repository at Coriell. “There is an enormous amount to learn about this debilitating disease and we at Coriell are eager to get these high-quality and well-characterized samples into the hands of researchers.”

More information about the NIGMS Human Genetic Cell Repository can be found at Coriell.org/1/NIGMS.

About the Coriell Institute for Medical Research

The Coriell Institute is a global leader in understanding how our personal genomes affect our health. Coriell is recognized as one of the world's leading biobanks, distributing biological samples and offering research and biobanking services to scientists in 85 countries around the globe. Coriell is the trusted steward of world-renowned collections for the National Institutes of Health, disease foundations and commercial clients. A pioneer in genomics, Coriell is examining the utility of using personal genetic information in clinical care through the Coriell Personalized Medicine Collaborative (CPMC) research study (cpmc.coriell.org). The institute is also unlocking the promise of induced pluripotent stem cells and their role in disease research and drug discovery. For more information, visit www.coriell.org, like us on Facebook or follow @Coriell_Science on Twitter.

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