Characterization of Patient-Derived GNAQ Mutated Endothelial Cells from Capillary Malformations

In a mono-centre exploratory study of 17 adult patients with capillary malformations, scientists found somatic mutations in the GNAQ or GNA11 genes. They applied an endothelial-selective cell isolation protocol to culture primary endothelial cells from skin biopsies from these patients.