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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...

Published: 10/28/2024 | Inventor(s): Elena-Raluca Nicoli, Cynthia Tifft

Keywords(s): Cell, DISEASES, Fibroblast, Gangllosldosls, Human, Lines, Patients, VEXXXX, VPXXXX, WBXXXX, WFXXXX, XCXXXX

Category(s): TherapeuticArea > Oncology, TherapeuticArea > Dental, Application > Consumer Products, TherapeuticArea > Infectious Disease, TherapeuticArea > Neurology, TherapeuticArea > Ophthalmology, Application > Diagnostics, TherapeuticArea > Endocrinology, TherapeuticArea > Cardiology, Application > Research Materials, Application > Occupational Safety and Health

Model Cell Lines With and Without AKT1 Mutations Derived from Proteus Syndrome Patients

The Proteus syndrome is a congenital disorder characterized by patchy overgrowth and hyperplasia (cell proliferation) of multiple tissues and organs, along with susceptibility to developing tumors. It is a rare disorder, with incidence of less than one case per million, caused by a somatic mutation. It is also a mosaic disorder, that is one in which...

Published: 10/28/2024 | Inventor(s): Marjorie Lindhurst, Leslie Biesecker

Keywords(s): CC3AXX, CCXXXX, CXXXXX, DERIVED, Lines, Patients, Proteus, Single-cell, Syndrome

Category(s): Collaboration Sought > Licensing, TherapeuticArea > Oncology, Application > Research Materials