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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: 7/25/2024 | 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

Mmut P.R106C/P.R106C Knock-In Methylmalonyl-CoA Mutase (Mmut) Allele mouse models for the Study of Methylmalonic Acidemia (MMA)

Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. In order to create mouse models of MMA to resemble the pathogenic mutations seen in patients, the NHGRI scientist used genome editing to generate new mutants of the Mmut allele - p.R106C. This allele recapitulates a missense mutation...

Published: 7/25/2024 | Inventor(s): Jessica Schneller, Randy Chandler, Charles Venditti

Keywords(s): Acidemia, ALLELE, Knock-in, Methylmalonic, Methylmalonyl-CoA, MMA, Mmut, MutaseMmut, P.R106C, P.R106C/, VPXXXX, WIXXXX, XEXXXX

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

Mmut P.Pro207_Lysl10del/P.Pro207_Lysl10del Knock-In Methylmalonyl-CoA Mutase (Mmut) Allele Mouse Models for the Study of Methylmalonic Acidemia (MMA)

Published: 7/25/2024 | Inventor(s): Jessica Schneller, Randy Chandler, Charles Venditti

Keywords(s): Acidemia, ALLELE, Knock-in, Methylmalonic, Methylmalonyl-CoA, MMA, Mmut, Mutase, P.Pro207_Lys210del, P.Pro207_Lys210del/, VPXXXX, WIXXXX, XEXXXX

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

Mmut p.G715v/p.G71 Knock-ln Methylmalonyl-CoA Mutase (Mmut) Allele Mouse Models for the Study of Methylmalonic Acidemia (MMA)

Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. In order to create mouse models of MMA to resemble the pathogenic mutations seen in patients, the NHGRI scientist used genome editing to generate new mutants of Mmut allele -p.G715V. This allele recapitulates a missense mutation...

Published: 7/25/2024 | Inventor(s): Jessica Schneller, Randy Chandler, Charles Venditti

Keywords(s): Acidemia, ALLELE, Knock-in, Methylmalonic, Methylmalonyl-CoA, MMA, Mmut, Mutase, P.G715V, P.G715V/, VPXXXX, WIXXXX, XEXXXX

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

Mice with a Floxed Allele of the alpha Subunit of the Heterotrimeric G Protein Go or Gi2

Heterotrimeric G proteins couple signals between GPCRs (G protein coupled receptors) and effectors such as adenylyl cyclase, phospholipase C and ion channels. Among the G proteins are Go and Gi2. Go is highly expressed in the brain and some endocrine tissues while Gi2 is widely expressed throughout the body. The ß?-subunits of Go interact with ion...

Published: 7/25/2024 | Inventor(s): Joel Abramowitz, Lutz Birnbaumer

Keywords(s): ?, ALLELE, ALPHA, Floxed, G, Gi2, Go, Heterotrimeric, Listed LPM Tong as of 4/15/2015, Mice, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, Protein, SUBUNIT, WBXXXX, WIXXXX, WJXXXX, WKXXXX, XEXXXX, YAXXXX

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

TRPC Knockout (KO) Mice and Mice with a Floxed Allele of TRPC Ion Channel Genes

TRPCs (Canonical Transient Receptor Potential Channels) are a group of non-selective cation channels that allow sodium and calcium into cells. There are seven different genes in mice that code TRPCs. The in vivo roles played by TRPCs as a whole are poorly understood and very little is known about the in vivo roles played by individual TRPCs nor the...

Published: 7/25/2024 | Inventor(s): Joel Abramowitz, Lutz Birnbaumer

Keywords(s): ALLELE, CHANNEL, Floxed, Gene, ION, Knockout, Listed LPM Tong as of 4/15/2015, Mice, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, TRPC3, TRPC5, TRPC7, WBXXXX, WIXXXX, WJXXXX, WKXXXX, XEXXXX, YAXXXX

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