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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: 10/28/2024   |   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 Cell Lines with Mannosyl Oligosaccharide Glucosidase (MOGS) Defect for the Study and Prevention of Infection
This technology includes human cell lines from patients who have genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase, causing the rare congenital disorder of glycosylation type IIb, also known as MOGS-CDG. This defects appears to impair the ability of viruses to infect a second round of cells, which can be used to study and...
Published: 10/28/2024   |   Inventor(s): Cynthia Tifft, Sergio Rosenzweig, David Adams, Lynne Wolfe, William Gahl
Keywords(s): Cell, Defect, GLYCOPROTEIN, Glycosidase, Human, Lines, Mannosyl, MOG, MOGS, MYELIN, Oligodendrocyte, Olygosaccharide, VLXXXX, VPXXXX, WIXXXX
Category(s): TherapeuticArea > Endocrinology, TherapeuticArea > Infectious Disease, TherapeuticArea > Dental, TherapeuticArea > Cardiology, TherapeuticArea > Ophthalmology, TherapeuticArea > Oncology, Application > Research Materials
Human Cell Lines with NGLY1 Mutations for the Study of NGLY1 Deficiency and Therapeutic Development
Congenital disorders of glycosylation (CDGs) are a group of inborn errors characterized by abnormalities in the process of glycosylation of biomolecules. Although more than 100 different CDGs have been reported, only one has been thoroughly described, namely NGLY1 deficiency or NGLY1-CDG. NGLY1 encodes N-glycanase 1, an enzyme involved in the cytosolic...
Published: 10/28/2024   |   Inventor(s): William Gahl, May Malicdan, Lynne Wolfe
Keywords(s): Cell, Human, Lines, Mutations, NGL, VEXXXX, WIXXXX, Y1
Category(s): Application > Research Materials, TherapeuticArea > Neurology
Lymphoblastoid Cell Lines with a Specific Allele of ABCA7 Gene for the Screening of Small Molecules for Therapeutic Development
This technology includes lymphoblastoid cell lines from individuals genotyped as carrying the minor (G) allele of ABCA7 SNP rs113809142 [ss491752998; SNV-chr19-1007244], to be used for small molecule screening and eventual therapeutic development. The ABCA7 gene is the ATP-binding cassette, sub-family A (ABC1), member 7. It encodes a protein that is...
Published: 10/28/2024   |   Inventor(s): James ("Jim") Mullikin, Jennifer Johnston, Leslie Biesecker
Keywords(s): ABCA7, ALLELE, Cell, Gene, Lines, Listed LPM Contreras as of 4/15/2015, Lymphoblastoid, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, RXXXXX, Specific, VHXXXX, VPXXXX, WIXXXX, WJXXXX, XEXXXX
Category(s): TherapeuticArea > Endocrinology, Application > Therapeutics, TherapeuticArea > Dental, TherapeuticArea > Oncology, TherapeuticArea > Ophthalmology, Application > Research Materials, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease
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: 10/28/2024   |   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: 10/28/2024   |   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: 10/28/2024   |   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 Serous Endometrial Cancer Cell Lines CRISPR-edited to knock-in FBXW7 mutations for Use in Cancer related Molecular and Cellular Studies
This technology includes endometrial cancer cell lines for use in molecular and cellular studies to determine the effects of cancer-associated FBXW7 (F-box and WD repeat domain-containing 7) mutations, including but not limited to biochemical studies, proteomic studies, and drug sensitivity/resistance studies. Clustered Regularly Interspaced Palindromic...
Published: 10/28/2024   |   Inventor(s): Mary Urick, Daphne Bell
Keywords(s): CANCER, Cell, CRISPR-edited, endometrial, FBXW7, Human, Knock-in, Lines, Mutations, Serous, VCXXXX, WIXXXX, XEXXXX
Category(s): TherapeuticArea > Oncology, Application > Therapeutics, Application > Research Materials
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
Patient-derived induced pluripotent stem cell (iPSC) lines for the study of lysosomal storage diseases (LSDs)
This technology includes the generation and use of human induced pluripotent stem cell (iPSC) lines that can be used to study and screen potential therapeutics for lysosomal storage diseases (LSDs). LSDs are a group of 50 genetic disorders caused by mutations in the genes encoding lysosomal enzymes and proteins. Although various therapeutic approaches...
Published: 10/28/2024   |   Inventor(s): Miao Xu, Yu-Shan Cheng, Manisha Pradhan, Jizhong Zou, Jeanette Beers, Wei Zheng
Keywords(s): Cell, COMPOUND, DERIVED, Disease, iPS, Lines, Lysosomal, Modeling, PATIENT, screening, Storage, VPXXXX, WIXXXX, XHXXXX
Category(s): TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, TherapeuticArea > Ophthalmology, TherapeuticArea > Dental, TherapeuticArea > Oncology, TherapeuticArea > Endocrinology, Application > Research Materials, ResearchProducts > Research Equipment
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