Technology ID
TAB-3666
Human Fibroblast Cell Lines with PMM2 Congenital Disorder of Glycosylation for Therapeutic Development
E-Numbers
E-086-2017-0
Lead Inventor
Gahl, William (National Human Genome Research Institute (NIH/NHGRI))
Co-Inventors
Wolfe, Lynne (National Human Genome Research Institute (NIH/NHGRI))
Ferreira Lopez, Carlos (National Human Genome Research Institute (NIH/NHGRI))
Applications
Therapeutics
Research Materials
Therapeutic Areas
Ophthalmology
Oncology
Neurology
Infectious Disease
Endocrinology
Dental
Cardiology
Lead IC
NHGRI
Congenital disorders of glycosylation (CDGs) are inherited disorders of abnormal protein glycosylation that affect multiple organ systems. More than 100 different CDGs have been described, affecting protein and lipid glycosylation. NHGRI investigators have been able to isolate fibroblasts from patients with PMM2 (phosphomannomutase)-CDG, also known at CDG type Ia, which is an inherited, broad-spectrum disorder with developmental and neurological abnormalities.
Commercial Applications
These cells can be used to test potential therapeutics for PMM2-CDG.
Competitive Advantages
Evaluation of potential therapies for this disorder, which has limited treatment options.
Licensing Contact: