Generation of an ACVRL1 knockout iPS cell line for the in vitro study of HHT type 2 associated angiogenesis

Background Hereditary hemorrhagic telangiectasia (HHT) type 2 is an autosomal dominant disease in which one allele of the ACVRL1 gene is mutant. Patients exhibit severe disturbances in TGF-beta/BMP dependent angiogenesis and, clinically, present with severe nosebleeds and a highly reduced quality of life. The aim of our study was to use CRISPR/Cas9 to knockout ACVRL1 in normal induced pluripotent stem (iPS) cells and evaluate the effects on TGF-beta and BMP related gene expression and angiogenesis.