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

Description:

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 or malfunction of GBA1 leads to the accumulation of insoluble glucocerebrosides (derived mostly from ingested red and white blood cell membranes) in tissues, which is a major symptom of Gaucher disease. Gaucher disease is a rare and heterogeneous disorder, caused by inherited GBA1 genetic mutations. The disease has been classified into three types, two of which include neurological abnormalities. There also appears to be a link between GBA1 mutations, Gaucher's disease and Parkinson's disease, thus, the insights gained from studying Gaucher's disease could allow for better understanding of other neurodegenerative disorders.