当前位置： SCI文献检索 > Stem Cell Research期刊下所有文献 > 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.

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.

journal_name

Stem Cell Res

journal_title

Stem cell research

authors

Pongpamorn P,Dahlmann J,Haase A,Ebeling CT,Merkert S,Göhring G,Lachmann N,Martens A,Haverich A,Martin U,Olmer R

doi

10.1016/j.scr.2020.101707

subject

Has Abstract

pub_date

2020-03-01 00:00:00

pages

101707

eissn

1873-5061

issn

1876-7753

pii

S1873-5061(20)30009-X

journal_volume

43

pub_type

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