HOME
SEARCH
RSS FEED
SUBSCRIBE
Human Fibroblast Cell Lines from Patients with Gangliosidosis Diseases for the Screening of Disease Therapeutics
Case ID:
TAB-3629
Web Published:
12/6/2022
Description:
This technology includes cell lines from patients with gangliosidosis diseases for the screening of potential therapeutics. Gangliosidosis contains different types of lipid storage disorders caused by the accumulation of lipids known as gangliosides. GM1 gangliosidosis is an ultra-rare lysosomal storage disorder caused by mutations in galactosidase beta 1 (GLB1) that result in a deficiency of beta-galactosidase. GM2 gangliosidoses are a group of autosomal recessive lysosomal storage disorders caused by accumulation of GM2 ganglioside due to the absence or near absence of B-hexosamindase. GM2 gangliosidosis is caused by a loss of function mutation in the gene that codes for the alpha subunit of B-hexosamindase (HEXA), the beta subunit of B-hexosamindase (HEXB), or GM2 activator protein (GM2A). Mutations in these three genes cause the three forms of GM2 gangliosidosis - Tay Sachs disease, Sandhoff disease and GM2 activator protein deficiency, respectively. NHGRI investigators isolated fibroblasts from patients with lysosomal storage disorders who have various mutations in GLB1 or HEXA, and those lines are available for licensing.
Patent Information:
Title
App Type
Country
Serial No.
Patent No.
File Date
Issued Date
Expire Date
Patent Status
Direct Link:
https://nih.technologypublisher.com/tech/Human_Fibroblast_Cell_Lines_from_Pat ients_with_Gangliosidosis_Diseases_for_the_Screening_of_Disease_Therapeutics
Category(s):
Oncology
Dental
Consumer Products
Infectious Disease
Neurology
Ophthalmology
Diagnostics
Endocrinology
Cardiology
Research Materials
Occupational Safety and Health
Bookmark this page
Download as PDF
For Information, Contact:
Anna Solowiej
Senior Licensing and Patenting Manager
NIH Technology Transfer
301-435-7791
anna.solowiej@nih.gov
Inventors:
Elena-Raluca Nicoli
Cynthia Tifft
Keywords:
Cell
DISEASES
Fibroblast
Gangllosldosls
Human
Lines
Patients
VEXXXX
VPXXXX
WBXXXX
WFXXXX
XCXXXX
Home
|
Search
|
RSS
|
Subscribe
© 2024. All Rights Reserved. Powered by
Inteum