Human iPSC and CRISPR Targeted Gene Knock-In Strategy for Studying the Somatic TIE2^L914F Mutation in Endothelial Cells

To study the effects of targeted mutations on an endogenous level, scientists generated and characterized an iPSC derived model for venous malformations (VMs). CRISPR-Cas9 technology was used to generate a novel human iPSC line with an amino acid substitution L914F in the TIE2 receptor, known to cause VMs.