mProX™ Human HCN1 Stable Cell Line

Product Information

Target Protein

HCN1

Target Family

Hyperpolarization-activated, Cyclic Nucleotide-gated Channels

Target Protein Species

Human

Host Cell Type

PC12; CHO-K1; HEK293

Target Classification

Ion Channel Cell Lines

Target Research Area

Cardiovascular Research; CNS Research

Related Diseases

Developmental And Epileptic Encephalopathy; Generalized Epilepsy With Febrile Seizures Plus, Type 10

Gene ID

348980

UniProt ID

O60741

Product Properties

Biosafety Level

Level 1

Activity

Yes

Quantity

10⁶ cells per vial

Applications

The first of four paralogous genes, HCN1, encodes the cyclic nucleotide-gated channels that are triggered by hyperpolarization. In the brain, HCN1 conducts a hyperpolarization-activated current. Neuronal firing and, when it occurs in excess, neuronal hyperexcitability are encouraged by the depolarization. Significantly, animal models of fever syndrome and febrile status epilepticus have been found to exhibit modified expression and function of HCN1. Five probands and four families with GEFS + symptoms were found to have incompletely penetrant, possibly pathogenic mutations in HCN1. Compared to de novo mutations that arise in transmembrane areas, variants linked to GEFS + typically impact non-transmembrane regions and have a milder impact on ion channel performance. There were also discovered four mutations of unknown importance outside transmembrane regions that could pose a concern. The customized HCN1 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 Ashley

I've been using the HCN1 cell line for my studies, and it has been an excellent choice. Jan 08 2020

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chat Jason

The HCN1 cell line showed good performance in our hands. It was reliable for most experiments, and the customer support team was helpful in troubleshooting. Jun 29 2020

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FAQ

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Published Data

Fig.1 Effect of MEL55A on HCN isoforms heterologously expressed in HEK293 cells.

The characteristics of MEL55A in HEK293 cells at potentials that are physiologically relevant. The three isoforms' current elicited by a hyperpolarizing step at -80 mV was observed to be affected by 10 μM MEL55A.

Ref: Dini, Leonardo, et al. "Selective blockade of HCN1/HCN2 channels as a potential pharmacological strategy against pain." Frontiers in Pharmacology 9 (2018): 1252.

Pubmed: 30467478

DOI: 10.3389/fphar.2018.01252

Research Highlights

Though few cases of neurological illnesses due to variations affecting hyperpolarization-activated cyclic nucleotide-gated (HCN) channels have been described thus far, HCN channel malfunction has been linked to epileptogenesis. HCN channels regulate neuronal excitability.
Marini, Carla, et al. "HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond." Brain 141.11 (2018): 3160-3178.
Pubmed: 30351409 DOI: 10.1093/brain/awy263

Encephalopathies related to development and epilepsy are linked to pathogenic mutations in HCN1. Recurrent de novo HCN1 M305L pathogenic mutation is linked to drug-resistant epilepsy and severe developmental disability.
Bleakley, Lauren E., et al. "Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy." Brain 144.7 (2021): 2060-2073.
Pubmed: 33822003 DOI: 10.1093/brain/awab145