Generation of induced pluripotent stem cell lines from three Marfan syndrome patients carrying mutations in the fibrillin-1 gene.

Marfan syndrome is a heritable connective tissue disorder associated with cardiovascular complications, including progressive aortic aneurysm and dissection, caused by mutations in the fibrillin-1 (FBN1) gene. We generated human induced pluripotent stem cells (hiPSCs) from skin fibroblasts of 3 patients carrying FBN1 mutations (FBN1 c.6554 T > C, FBN1 c.4425-4426delinsC, FBN1 c.6806 T > C) using an episomal vector reprogramming system. These hiPSC lines exhibit pluripotent stem cell morphology, express established markers of undifferentiated hPSC state, maintain a normal karyotype, and differentiation potential into the 3 germ layers. These hiPSC lines provide a cellular model to investigate Marfan syndrome and its associated cardiovascular pathology in vitro.