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Human Fibroblast Cell Lines with PMM2 Congenital Disorder of Glycosylation for Therapeutic Development
Case ID:
TAB-3666
Web Published:
12/6/2022
Description:
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.
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Direct Link:
https://nih.technologypublisher.com/tech/Human_Fibroblast_Cell_Lines_with_PMM 2_Congenital_Disorder_of_Glycosylation_for_Therapeutic_Development
Category(s):
Therapeutics
Neurology
Infectious Disease
Cardiology
Endocrinology
Ophthalmology
Oncology
Dental
Research Materials
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For Information, Contact:
Anna Solowiej
Senior Licensing and Patenting Manager
NIH Technology Transfer
301-435-7791
anna.solowiej@nih.gov
Inventors:
Lynne Wolfe
Carlos Ferreira Lopez
William Gahl
Keywords:
Cell
Congenital
DISORDER
Fibroblast
Glycosylatlon
Human
Lines
PMM2
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