Live-cell imaging reveals decreased cAMP in a PFE-associated c.1050-3C>G PTH1R cell model
K. Marnet·M. Herrmann·M. Wiesler·A. Borst·D. Liedtke·G. Pattappa·D. Docheva·V. O. Nikolaev·A. Stellzig-Eisenhauer·M. Eigenthaler·H. Subramanian
Abstract Primary failure of eruption (PFE) is a rare autosomal disorder provoked by heterozygous mutations in the parathyroid hormone receptor 1 ( PTH1R ) gene. PTH1R is a G protein-coupled receptor (GPCR) which regulates intracellular signaling molecules like cAMP. By using CRISPR/Cas9, the pathogenic PTH1R variant, c.1050-3C>G, was introduced into the periodontal ligament (PDL-hTERT) cell line to investigate molecular mechanisms in a PFE in vitro model. The PDL-hTERT immortal cell line, der