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Fibroblast Cell Lines (with L444P/RecNci1 Genotype) for the Screening of Small Molecules for Gaucher Disease Treatment

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)....

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

Keywords(s): Cell, Fibroblast, Gaucher, Genotype, L44P/RecNci1, Lines, PATIENT, VPXXXX, WKXXXX, XHXXXX

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

Patient-derived induced pluripotent stem cell (iPSC) lines for the study of lysosomal storage diseases (LSDs)

This technology includes the generation and use of human induced pluripotent stem cell (iPSC) lines that can be used to study and screen potential therapeutics for lysosomal storage diseases (LSDs). LSDs are a group of 50 genetic disorders caused by mutations in the genes encoding lysosomal enzymes and proteins. Although various therapeutic approaches...

Published: 7/25/2024 | Inventor(s): Miao Xu, Yu-Shan Cheng, Manisha Pradhan, Jizhong Zou, Jeanette Beers, Wei Zheng

Keywords(s): Cell, COMPOUND, DERIVED, Disease, iPS, Lines, Lysosomal, Modeling, PATIENT, screening, Storage, VPXXXX, WIXXXX, XHXXXX

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