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).
Because this mutation is involved in neuronopathic Gaucher disease, it can be used for the study of neuronopathic forms of the disorder.