Generation of an induced pluripotent stem cell (iPSC) line of a Marfan syndrome patient with a pathogenic FBN1 c.5372G > A (p. Cys1791Tyr) variant

Marfan syndrome (MFS) is a connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular system. Ruptured aortic aneurysms in MFS patients are associated with high mortality rates. MFS is typically caused by pathogenic variants in the fibrillin-1 (FBN1) gene. Here, we report a generated induced pluripotent cell (iPSC) line of a MFS patient with a FBN1 c.5372G > A (p.Cys1791Tyr) variant. For that, skin fibroblasts of a MFS patient carrying a FBN1 c.5372G > A (p.Cys1791Tyr) variant were successfully reprogrammed into iPSCs using the CytoTuneTM-iPS 2.0 Sendai Kit (Invitrogen). The iPSCs showed a normal karyotype, expressed pluripotency markers, were able to differentiate into three germ layers and carried the original genotype.

Automated summary

Marfan syndrome (MFS) is a connective tissue disorder that affects the ocular, skeletal, and cardiovascular systems. It is caused by pathogenic variants in the FBN1 gene. This study successfully generated an induced pluripotent cell (iPSC) line from a MFS patient carrying a FBN1 c.5372G > A (p.Cys1791Tyr) variant. The iPSCs exhibited normal characteristics and maintained the original genotype.