Science and Research

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 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.
Publication details
DOI: 10.1016/j.scr.2020.101707
Journal: Stem Cell Res
Pages: 101707 
Work Type: Original
Location: BREATH
Disease Area: ROR
Partner / Member: MHH
Access-Number: 32062130
See publication on PubMed

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