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
Summary
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 |
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| Journal | Stem cell research |
| Publication Date | 2020 Mar;43:101707 |
| PubMed | 32062130 |
| DOI | 10.1016/j.scr.2020.101707 |