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Human Fibroblast Cell Lines Heterozygous for Glucocerebrosidase (GBA1) Mutation N370S for the Study of Neurodegenerative Disorders and their Treatments

This technology includes six cell lines for the study of Glucocerebrosidase (GBA1) mutations which could be used for the evaluation and eventual treatments for conditions such as Gaucher's disease and Parkinson's disease. GBA1 is a lysosomal enzyme, responsible for breakdown of a fatty material called glucocerebroside (or glucosyl ceramide). Deficiency...

Published: 7/25/2024 | Inventor(s): Grisel Lopez, Barbara Stubblefield, Ellen Sidransky

Keywords(s): Cell, Fibroblast, GBA1, GLUCOCEREBROSIDASE, HETEROZYGOUS, Human, Lines, MUTATION, N370S, VEXXXX, WIXXXX, XEXXXX

Category(s): Application > Therapeutics, TherapeuticArea > Neurology, Application > Research Materials

Fibroblast Cell Lines Homozygous for Glucocerebrosidase (GBA1) Mutation N370S for the Screening of Small Molecules for Gaucher Disease Treatment

This technology includes two human fibroblast cell lines 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...

Published: 7/25/2024 | Inventor(s): Barbara Stubblefield, Ellen Sidransky

Keywords(s): Cell, Fibroblast, GBA1, GLUCOCEREBROSIDASE, HOMOZYGOUS, Lines, Listed LPM Vepa as of 4/15/2015, MUTATION, N370S, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, VPXXXX, WIXXXX, WKXXXX, XHXXXX

Category(s): ResearchProducts > Research Equipment, Application > Research Materials, TherapeuticArea > Ophthalmology, TherapeuticArea > Endocrinology, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, Application > Therapeutics, TherapeuticArea > Dental, TherapeuticArea > Oncology