Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder characterized by a genetic predisposition for thoracic aortic aneurysm and dissection. Despite heterozygous loss-of-function mutations in genes for ligand, receptor, or downstream mediators of the transforming growth factor beta (TGFbeta) pathway, LDS is associated with a signature of high TGFbeta signaling. We generated induced pluripotent stem cell (iPSC) lines from three adult LDS-patients (two male, one female) of a family with a heterozygous point mutation in exon 4 of the TGFbeta-receptor1 (TGFBR1) gene (p.M253I; c.759G>A). The lines offer a valuable resource for modeling the pathophysiology of genetically mediated aortic disease.
- Pongpamorn, P.
- Dahlmann, J.
- Haase, A.
- Ebeling, C. T.
- Merkert, S.
- Gohring, G.
- Lachmann, N.
- Martens, A.
- Haverich, A.
- Martin, U.
- Olmer, R.