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.

Abstract

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.

• Authors: Praeploy Pongpamorn, Julia Dahlmann, Alexandra Haase, Carolin Theresa Ebeling, Sylvia Merkert, Gudrun Göhring, Nico Lachmann, Andreas Martens, Axel Haverich, Ulrich Martin, Ruth Olmer
• Journal: Stem cell research (Stem Cell Res) Vol. 43 Pg. 101707 (03 2020) ISSN: 1876-7753 [Electronic] England
• PMID: 32062130 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Chemical References

• Receptor, Transforming Growth Factor-beta Type I
• TGFBR1 protein, human

Topics

• Adult
• Aged
• Female
• Humans
• Induced Pluripotent Stem Cells (metabolism)
• Loeys-Dietz Syndrome (genetics)
• Male
• Middle Aged
• Mutation
• Receptor, Transforming Growth Factor-beta Type I (genetics)