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Fibroblast Cell Lines (with L444P/RecNci1 Genotype) for the Screening of Small Molecules for Gaucher Disease Treatment
Case ID:
TAB-3635
Web Published:
12/6/2022
Description:
This technology includes two human fibroblast cell lines to be used to study the defects in GBA1 gene and protein and to screen small molecules for involvement in Gaucher disease. Glucocerebrosidase (GBA1 or GCase or beta-glucosidase) is a lysosomal enzyme, responsible for breakdown of a fatty material called glucocerebroside (or glucosyl ceramide). Deficiency or malfunction of GBA1 leads to the accumulation of insoluble glucocerebrosides in tissues, which is a major symptom of Gaucher disease. Gaucher disease is a rare and heterogeneous disorder, caused by inherited genetic mutations in GBA1. Fibroblasts from various patients were collected, including those with genotype L444P/ recombinant allele (recNci1).
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Direct Link:
https://nih.technologypublisher.com/tech?title=Fibroblast_Cell_Lines_(with_L4 44P%2fRecNci1_Genotype)_for_the_Screening_of_Small_Molecules_for_Gaucher_Dis ease_Treatment
Category(s):
Therapeutics
Ophthalmology
Endocrinology
Infectious Disease
Cardiology
Research Equipment
Dental
Oncology
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For Information, Contact:
Eggerton Campbell
Licensing And Patenting Manager
NIH Technology Transfer
301-402-1648
eggerton.campbell@nih.gov
Inventors:
Barbara Stubblefield
Ellen Sidransky
Keywords:
Cell
Fibroblast
Gaucher
Genotype
L44P/RecNci1
Lines
PATIENT
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