Topic: brain capillary endothelial-like cells

SYNGAP1-related encephalopathy is a rare neurodevelopmental disease characterized by diverse genetic mutations and phenotypic features. It is not known whether the blood-brain barrier (BBB) is affected in SYNGAP1 patients, therefore, this study aimed to establish a human induced pluripotent stem cell (hiPSC)-based BBB model of the SYNGAP1 disorder and identify relevant functional and molecular signatures. To establish the BBB models, SYNGAP1 knockout (KO), patient-derived hiPSC lines (Leu323Arg) and isogenic controls were differentiated into brain capillary endothelial-like cells and seeded on