Article
Generation of three induced pluripotent stem cell lines (MHHi012-A, MHHi013-A, MHHi014-A) from a family with Loeys-Dietz syndrome carrying a heterozygous p.M253I (c.759G>A) mutation in the TGFBR1 gene.
Stem cell research - 1 Mar 2020
Pongpamorn Praeploy, Dahlmann Julia, Haase Alexandra, Ebeling Carolin Theresa, Merkert Sylvia, Göhring Gudrun, Lachmann Nico, Martens Andreas, Haverich Axel, Martin Ulrich, Olmer Ruth
Abstract excerpt
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 β (TGFβ) pathway, LDS is associated with a signature of high TGFβ signaling. We generated induced pluripotent stem cell (iPSC)...
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