mProX™ Human CLCN1 Stable Cell Line

Product Information

Target Protein

CLCN1

Target Family

Voltage Gated Chloride Channel

Target Protein Species

Human

Host Cell Type

DM1; CHO-K1; HEK293

Target Classification

Ion Channel Cell Lines

Target Research Area

CNS Research

Related Diseases

Myotonia Congenita

Gene ID

1180

UniProt ID

P35523

Product Properties

Biosafety Level

Level 1

Activity

Yes

Quantity

10⁶ cells per vial

Applications

The CLCN1 gene codes for the production of a particular class of protein known as a chloride channel. The instructions needed to create the ClC-1 chloride channel are encoded by the CLCN1 gene. Only skeletal muscles-the muscles employed for movement-have these channels. The passage of chloride ions into these cells is regulated by ClC-1 channels, which are found across the cell membrane. The electrical charge of the cells is stabilized by this inflow, preventing aberrant muscular contraction. Two identical protein subunits, both derived from the CLCN1 gene, make up ClC-1 channels. The two proteins cooperate to control the amount of chloride ions that enter skeletal muscle cells, even though each subunit creates a distinct hole (pore) for the ions to travel through. The customized CLCN1 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

chat Linda

This CLCN1 cell line is the best choice for laboratories wishing to minimise troubleshooting time and maximise data and experimental volumes. Oct 31 2022

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chat Shirley

The ideal CLCN1 cell line, often used in our laboratories. Jun 28 2020

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FAQ

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Published Data

Fig.1 CLCN1-luc minigene reporter construct splicing and expression in immortalized DM1 cell lines.

Using primers that span CLCN1 exon 2 to the luciferase coding region, RT-PCR analysis was performed to compare the retention of the CLCN1-luc construct in immortalized DM1 cells to WT cells (-intron 2). The results showed that partial rescue of the CLCN1-luc DM1 myoblasts was achieved upon treatment with 10 µM AKT inhibitor Triciribine. As a measure of similar cDNA synthesis, GAPDH was amplified.

Ref: O'Leary, Debra A., et al. "HTS-compatible patient-derived cell-based assay to identify small molecule modulators of aberrant splicing in myotonic dystrophy type 1." Current Chemical Genomics 4 (2010): 9.

Pubmed: 20502647

DOI: 10.2174/1875397301004010009

Research Highlights

The lack of dominance in patients and expression systems is most likely caused by p.Q412P inducing a severe folding defect, but once expressed in the plasma membrane, it exhibits WT features.
Vindas-Smith, Rebeca, et al. "Identification and functional characterization of CLCN1 mutations found in nondystrophic myotonia patients." Human mutation 37.1 (2016): 74-83.
Pubmed: 26510092 DOI: 10.1002/humu.22916

One of the most prevalent types of non-dystrophic myotonia, known as CLCN1-related myotonia congenita (MC), causes muscles to relax slowly following voluntary or triggered contractions.
Hu, Chaoping, et al. "Myotonia congenita: clinical characteristic and mutation spectrum of CLCN1 in Chinese patients." Frontiers in Pediatrics 9 (2021): 759505.
Pubmed: 34790634 DOI: 10.3389/fped.2021.759505