mProX™ Human GABRA1 Stable Cell Line

Product Information

Target Protein

GABRA1

Target Family

GABAA

Target Protein Species

Human

Host Cell Type

CHO-K1; HEK293

Target Classification

Ion Channel Cell Lines

Target Research Area

CNS Research

Related Diseases

Epilepsy; Developmental And Epileptic Encephalopathy

Gene ID

2554

UniProt ID

P14867

Product Properties

Biosafety Level

Level 1

Activity

Yes

Quantity

10⁶ cells per vial

Applications

The GABRA1 gene codes for the alpha-1 (α1) subunit, which is a single component of the GABAA receptor protein. Gamma-amino butyric acid (GABA) is a neurotransmitter that binds to GABAA receptors in the brain to transfer messages. The opening created by the subunits opens when GABA connects, allowing chloride ions to pass through the cell membrane. Chloride ions enter the cell through the open pore after infancy, creating an environment that prevents or inhibits neuronal activation. In both toddlers and adults, the main function of GABA is to keep the brain from becoming overstimulated by too many messages. On the other hand, when the pore is opened in neonates and babies, chloride ions flow out of the cell, facilitating signaling between neurons. The customized GABRA1 stable cell line can be used in antibody discovery and development, potential drug candidate screening and signaling pathway researches.

Protocols

Please visit our protocols page.

Customer Reviews

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The cell line was exactly what I was looking for. Apr 08 2023

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FAQ

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Published Data

Fig.1 The R214C subunit mutation decreases GABA-evoked currents.

Examples of GABA-evoked current traces in response to quick administrations of GABA at the specified doses in WT (Black) or R214C (Red) GABAAR-expressing HEK293 cells. Increasing amounts of GABA were perfused into the cells while they were maintained at -60 mV.

Ref: Bai, Yun-Fei, et al. "Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy." Molecular brain 12 (2019): 1-17.

Pubmed: 31707987

DOI: 10.1186/s13041-019-0513-9

Research Highlights

Both benign and severe epilepsy syndromes have a genetic origin that is significantly influenced by GABRA1 mutations. In both moderate and severe phenotypes, myoclonic and tonic-clonic seizures with a pathologic response to photic stimulation are prevalent and shared features.
Johannesen, Katrine, et al. "Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies." Neurology 87.11 (2016): 1140-1151.
Pubmed: 27521439 DOI: 10.1212/WNL.0000000000003087

Verapamil's ability to restore function raises the possibility that it may be a novel therapeutic option for patients with the R214C variation and emphasizes the importance of precision medicine in the management of genetic EEs.
Bai, Yun-Fei, et al. "Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy." Molecular brain 12 (2019): 1-17.
Pubmed: 31707987 DOI: 10.1186/s13041-019-0513-9