Stem cell research, Volume 90, 1 1 2025, Pages 103877 Generation of three induced pluripotent stem cell clones from a functional single ventricle patient carrying the BRAF c.1897 T > C variant. Bos TA, Polyakova E, DeRuiter MC, Nühn E, Jongbloed MRM
Cardiofaciocutaneous syndrome is a genetic disorder characterized by congenital heart disease, developmental delays and ectodermal abnormalities. Cardiofaciocutaneous syndrome is caused by pathogenic variants in the genes of the RAS/MAPK pathway, particularly BRAF. However, the mechanism by which congenital heart defects arise in RASopathy patients is still poorly understood. Therefore, using non-integrating episomal vectors, we generated three hiPSC clones from peripheral blood mononuclear cells from a 33-year old male carrying a c.1897 T > C missense variant in the BRAF gene, who was born with pulmonary stenosis, tricuspid atresia and hypoplastic right ventricle, consistent with a functional single ventricle.
