mProX™ Human AVPR2 Stable Cell Line
- Product Category:
- Membrane Protein Stable Cell Lines
- Subcategory:
- GPCR Cell Lines
To download a Certificate of Analysis, please enter a lot number in the search box below. Note: Certificate of Analysis not available for kit components.
Lot Number
Made to Order Inquiry
InquiryProduct Information
Product Properties
Protocols
Please visit our protocols page.
Customer Reviews
Astrid
Verified Customer
Arno
Verified Customer
Any questions about our products? Please visit our frequently asked questions page.
Published Data
Fig.1 Stability of NDI-causing V2R mutants.
100 μM cycloheximide (CHX) was applied to MDCK cells stably expressing WT, L86P, R113Q, C192S, M272R, and W323_I324insR for 0, 4, and 8 hours before immunoblotting with anti-GFP antibody.
Ref: Prosperi, Federica, et al. "Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R-V2R mutation." Scientific Reports 10.1 (2020): 16383.
Pubmed: 33009446
DOI: 10.1038/s41598-020-73089-x
Research Highlights
The diminished capacity of renal collecting duct cells to reabsorb water in response to vasopressin's antidiuretic impact is a hallmark of congenital nephrogenic diabetes insipidus (CNDI). 90% of individuals with CNDI have an X-linked hereditary disease brought on by mutations in the gene encoding the arginine vasopressin receptor 2 (AVPR2).
Joshi, Shivani, et al. "Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus." European Journal of Pediatrics 177 (2018): 1399-1405.
Pubmed:
29594432
DOI:
10.1007/s00431-018-3132-z
These results revealed that the unique mutation in AVPR2 was a type III mutant receptor and a real disease-causing variation with mild consequences.
Guo, Shusen, et al. "Clinical and functional characterization of a novel mutation in AVPR2 causing nephrogenic diabetes insipidus in a four-generation Chinese family." Frontiers in Pediatrics 9 (2021): 790194.
Pubmed:
34956990
DOI:
10.3389/fped.2021.790194