mProX™ Human SCN1A Stable Cell Line

Product Information

Target Protein

SCN1A

Target Family

Voltage Gated Sodium Channel

Target Protein Species

Human

Host Cell Type

CHO-K1; HEK293

Target Classification

Ion Channel Cell Lines

Target Research Area

Cardiovascular Research; CNS Research

Related Diseases

Dravet Syndrome; Generalized Epilepsy

Gene ID

6323

UniProt ID

P35498

Product Properties

Biosafety Level

Level 1

Activity

Yes

Quantity

10⁶ cells per vial

Applications

Voltage-gated sodium channel (VGSC) channels are crucial for the initiation and propagation of action potentials, as well as for appropriate neurological function. Nine sodium channel subunits (Nav1.1-Nav1.9) have so far been identified and confirmed. The most prevalent epileptic gene and the most common pathogenic gene in the Dravet syndrome (DS), a catastrophic and untreatable epileptic encephalopathy (EE), is SCN1A, a Nav1.1 α subunit made up of 26 coding exons and found in the 85-kb gene area. De novo SCN1A pathogenic mutations can produce a wide range of phenotypes, from seriously ill people with DS to far less severe cases of genetic epilepsy febrile seizures plus (GEFS+). The customized SCN1A 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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FAQ

chat Melissa (Verified Customer)

What is the significance of SCN1A in stable cell line research? Jan 27 2023

chat Sherry Smith (Creative Biolabs Scientific Support)

SCN1A plays a crucial role in various cellular processes and has been the subject of numerous studies to understand its function and potential applications in research. Jan 27 2023

chat Timothy (Verified Customer)

Are there any known challenges or misconceptions related to SCN1A stable cell lines? Dec 14 2020

chat Sherry Smith (Creative Biolabs Scientific Support)

While SCN1A stable cell lines offer valuable insights, it's essential to ensure the accuracy of the stabilization process to maintain the integrity of the research findings. Dec 14 2020

Published Data

Fig.1 Creation of a SCN1A stable cell line by simultaneous genomic integration of two piggyBac transposons.

Western blot assay for 10 chosen clones validated protein production from each piggyBac transposon. Primary antibodies directed against the relevant epitope tag (FLAG, cMyc, or HA) allowed the identification of transgene-specific proteins. Protein loading is confirmed when the endogenous protein transferrin is detected.

Ref: Kahlig, Kristopher M., et al. "Multiplexed transposon-mediated stable gene transfer in human cells." Proceedings of the National Academy of Sciences 107.4 (2010): 1343-1348.

Pubmed: 20080581

DOI: 10.1073/pnas.0910383107

Research Highlights

A variety of epilepsy syndromes, from hereditary epilepsy with febrile seizures to catastrophic conditions like Dravet syndrome, are brought on by mutations in the SCN1A gene. Over 1,250 SCN1A mutations have been connected to epilepsy thus far.
Schutte, Soleil S., et al. "Model systems for studying cellular mechanisms of SCN1A-related epilepsy." Journal of neurophysiology 115.4 (2016): 1755-1766.
Pubmed: 26843603 DOI: 10.1152/jn.00824.2015

Numerous conditions, such as genetic epilepsy with febrile seizures plus (GEFS+), familial hemiplegic migraine (FHM), and severe juvenile epilepsy Dravet syndrome (DS), are linked to variations in the SCN1A gene.
Brunklaus, Andreas, et al. "SCN1A variants from bench to bedside-Improved clinical prediction from functional characterization." Human Mutation 41.2 (2020): 363-374.
Pubmed: 31782251 DOI: 10.1002/humu.23943