Human iPSC and CRISPR targeted gene knock-in strategy for studying the somatic TIE2^L914F mutation in endothelial cells.

ABSTRACT: Induced pluripotent stem cell (iPSC) derived endothelial cells (iECs) have emerged as a promising tool for studying vascular biology and providing a platform for modelling various vascular diseases, including those with genetic origins. Currently, primary ECs are the main source for disease modelling in this field. However, they are difficult to edit and have a limited lifespan. To study the effects of targeted mutations on an endogenous level, we 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. This enabled us to study the differential effects of VM causative mutations in iECs in multiple in vitro models and as

SUBMITTER: Lazovic B 

PROVIDER: S-EPMC11303492 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature