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


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) lines from three adult LDS-patients (two male, one female) of a family with a heterozygous point mutation in exon 4 of the TGFβ-receptor1 (TGFBR1) gene (p.M253I; c.759G>A). The lines offer a valuable resource for modeling the pathophysiology of genetically mediated aortic disease. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Pongpamorn P, Dahlmann J, Haase A, Ebeling CT, Merkert S, Göhring G, Lachmann N, Martens A, Haverich A, Martin U, Olmer R
Journal Stem cell research
Publication Date 2020 Mar;43:101707
PubMed 32062130
DOI 10.1016/j.scr.2020.101707

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