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Human Fibroblast Cell Lines with PMM2 Congenital Disorder of Glycosylation for Therapeutic Development

Congenital disorders of glycosylation (CDGs) are inherited disorders of abnormal protein glycosylation that affect multiple organ systems. More than 100 different CDGs have been described, affecting protein and lipid glycosylation. NHGRI investigators have been able to isolate fibroblasts from patients with PMM2 (phosphomannomutase)-CDG, also known...

Published: 7/25/2024 | Inventor(s): Lynne Wolfe, Carlos Ferreira Lopez, William Gahl

Keywords(s): Cell, Congenital, DISORDER, Fibroblast, Glycosylatlon, Human, Lines, PMM2, VEXXXX, VPXXXX, WIXXXX, WKXXXX

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

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

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...

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

Keywords(s): Cell, Fibroblast, GBA1, GLUCOCEREBROSIDASE, HETEROZYGOUS, Human, Lines, MUTATION, N370S, VEXXXX, WIXXXX, XEXXXX

Category(s): Application > Therapeutics, TherapeuticArea > Neurology, Application > Research Materials

Fibroblast Cell Lines Homozygous for Glucocerebrosidase (GBA1) Mutation N370S for the Screening of Small Molecules for Gaucher Disease Treatment

This technology includes two human fibroblast cell lines 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...

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

Keywords(s): Cell, Fibroblast, GBA1, GLUCOCEREBROSIDASE, HOMOZYGOUS, Lines, Listed LPM Vepa as of 4/15/2015, MUTATION, N370S, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, VPXXXX, WIXXXX, WKXXXX, XHXXXX

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

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

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: 7/25/2024 | 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

Fgfr4 Knockout Mouse Model for Respiratory System Studies

FGFR4 knockout: Lung alveoli fail to develop normally in double mutant with FGFR4 and FGFR3 knockouts. The fibroblast growth factor receptor 4 (fgfr-4) gene was inactivated by targeted disruption and homozygous recombination to study its possible role in lung development. FGFR-4 is expressed in postnatal lung, and FGFR-4 null mice have no obvious abnormalities....

Published: 4/8/2024 | Inventor(s): Chuxia Deng

Keywords(s): 4, factor, FGFR4, Fibroblast, Generation, Growth, IDXXXX, IXXXXX, Knockout, Mice, RECEPTOR

Category(s): Collaboration Sought > Licensing, Application > Diagnostics, Application > Research Materials, Application > Therapeutics

Fibroblast Growth Factor Receptor 1 (Fgfr1) Conditional Knock Out Mouse

Scientists at NIDDK have developed a fibroblast growth factor receptor 1 (Fgfr1) conditional knock out mouse. Fgfr1 is a member of the Fgfr family of transmembrane protein receptors with intrinsic tyrosine kinase activity. Fgfr1 is important in multiple biological processes, including mesoderm induction and patterning, cell growth and migration, organ...

Published: 7/25/2024 | Inventor(s): Chuxia Deng

Keywords(s): 1, AC5XXX, ACXXXX, AXXXXX, Conditional, factor, FGFR1, Fibroblast, Growth, Knockout, Mice, RECEPTOR

Category(s): Collaboration Sought > Licensing

Wild-Type and DNA Polymerase beta Null Mouse Embryotic Fibroblast Cell Lines Harboring a lambda-LIZ Transgene

Of great utility in toxicology and DNA repair research are knockout mice with cell lines enabling one to evaluate generations of gene mutations as a direct function of base excision repair. Of particular importance are lambda-LIZ transgenes. Likewise, wild-type and beta-pol null cell lines are equally important. While there exist cell lines carrying...

Published: 7/25/2024 | Inventor(s): Robert Sobol

Keywords(s): 3-@hydroxyacyl-coa dehydrogenase deficiency, 47 XYY syndrome, AC5XXX, ACXXXX, AXXXXX, B, Cell, DNA, Double Y, Embryonic, Fibroblast, HAD deficiency, harboring, HIS deficiency, Histidinemia, KO, Lines, Mouse, NULL, polymerase, SV40T-Ag, TRANSFORMED, TRANSGENE, WILD-TYPE, Y-LIZ

Category(s): Collaboration Sought > Licensing