A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p. Ile2585Thr) variation

Marfan syndrome (MFS) is a connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular system; and is typically cause by pathogenic variants in the fibrillin-1 (FBN1) gene. We report a generated induced pluripotent cell (iPSC) line of a MFS patient with an FBN1 c.7754T > C (p. Ile2585Thr) variant. The cell line was generated from peripheral blood mononuclear cells (PBMCs) and after reprogramming the line showed a no relevant copy number alterations, expression of pluripotency markers and was able to differentiate into three germ layers while carrying the original genotype.

Automated summary

Marfan syndrome is a connective tissue disorder characterized by manifestations in the ocular, skeletal, and cardiovascular system, often caused by pathogenic variants in the FBN1 gene. We have generated an induced pluripotent cell (iPSC) line from a Marfan syndrome patient with an FBN1 c.7754T > C (p. Ile2585Thr) variant. The iPSC line derived from peripheral blood mononuclear cells showed no copy number alterations, expressed pluripotency markers, and could differentiate into three germ layers while maintaining the original genotype.