Human Fibroblast Cell Lines from Patients with Gangliosidosis Diseases for the Screening of Disease Therapeutics

This technology includes cell lines from patients with gangliosidosis diseases for the screening of potential therapeutics. Gangliosidosis contains different types of lipid storage disorders caused by the accumulation of lipids known as gangliosides. GM1 gangliosidosis is an ultra-rare lysosomal storage disorder caused by mutations in galactosidase beta 1 (GLB1) that result in a deficiency of beta-galactosidase. GM2 gangliosidoses are a group of autosomal recessive lysosomal storage disorders caused by accumulation of GM2 ganglioside due to the absence or near absence of B-hexosamindase. GM2 gangliosidosis is caused by a loss of function mutation in the gene that codes for the alpha subunit of B-hexosamindase (HEXA), the beta subunit of B-hexosamindase (HEXB), or GM2 activator protein (GM2A). Mutations in these three genes cause the three forms of GM2 gangliosidosis - Tay Sachs disease, Sandhoff disease and GM2 activator protein deficiency, respectively. NHGRI investigators isolated fibroblasts from patients with lysosomal storage disorders who have various mutations in GLB1 or HEXA, and those lines are available for licensing.