mProX™ Human CELSR1 Stable Cell Line

Product Information

Target Protein

CELSR1

Target Family

Cadherin Family

Target Protein Species

Human

Host Cell Type

K-562; CHO-K1; HEK293

Target Classification

GPCR Cell Lines

Target Research Area

Inflammation Research

Related Diseases

Lymphatic Malformation; Hereditary Lymphedema

Gene ID

9620

UniProt ID

Q9NYQ6

Product Properties

Biosafety Level

Level 1

Activity

Yes

Quantity

10⁶ cells per vial

Applications

The Celsr1 gene collaborates with a group of conserved "core" planar cell polarity (PCP) genes and proteins, such as Vangl2 or Fzd3 and 6, to regulate polarity in the plane of the epithelium. The adherens junctions of epithelial cells are normally where this atypical cadherin is present. Mice with Celsr1 mutations display issues with neural tube closure, cilia polarity, inner ear hair cells, and cell migration and rearrangement. Craniorachischisis, the most severe form of neural tube closure issues in humans, is associated with CELSR1 mutations. Although Celsr1 is highly and consistently expressed throughout the germinal zones of the growing forebrain, nothing is known about its function after the neural tube closes. The customized CELSR1 stable cell line can be employed in the signaling pathway researches, as well as the screening of potential therapeutic candidates.

Protocols

Please visit our protocols page.

Customer Reviews

chat Taisei

I customized a CELSR1 knockout cell line and it was verified that the product meets my requirement. Mar 05 2022

chat Verified Customer

chat Nick

This cell line is very suitable for studying the CELSR1 signaling pathway. Jan 11 2023

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FAQ

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Published Data

Fig.1 Induced cis-dimerization of Crsh Celsr1 rescues junctional enrichment and trans-interactions with WT Celsr1.

Cell mixing assay where cells were transfected separately with either Celsr1WT-GFP or Celsr1Crsh-FKBP-HA and mixed. Shown are representative examples of mixed-cell junctions between Celsr1WT-GFP and Celsr1Crsh-FKBP-HA treated with ethanol or dimerizer.

Ref: Stahley, S. N., et al. Celsr1 adhesive interactions mediate the asymmetric organization of planar polarity complexes. Elife. 2021, 10, e62097.

Pubmed: 33529151

DOI: 10.7554/eLife.62097

Research Highlights

Most neural stem cells express the CELSR1 gene, which codes for cadherin EGF LAG seven-pass G-type receptor 1, during the embryonic stage. It is significant for neurodevelopment.
Chen, Z., et al. CELSR1 variants are associated with partial epilepsy of childhood. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 2022, 189(7-8), 247-256.
Pubmed: 36453712 DOI: 10.1002/ajmg.b.32916

Congenital cardiac disease is further connected to disturbance of the planar cell polarity pathway via the susceptibility gene CELSR1 for familial BAV and HLHS.
Theis, J. L., et al. CELSR1 risk alleles in familial bicuspid aortic valve and hypoplastic left heart syndrome. Circulation: Genomic and Precision Medicine. 2022, 15(2), e003523.
Pubmed: 35133174 DOI: 10.1161/CIRCGEN.121.003523

While CELSR1 mutations in females showed almost total penetrance and were linked to early-onset lymphedema, they only showed partial penetrance in males and were linked to late-onset lymphedema.
Maltese, P. E., et al. Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants. American Journal of Medical Genetics Part A. 2019, 179(9), 1718-1724.
Pubmed: 31215153 DOI: 10.1002/ajmg.a.61269