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

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) pat...

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Bibliographic Details
Main Authors: Praeploy Pongpamorn, Julia Dahlmann, Alexandra Haase, Carolin Theresa Ebeling, Sylvia Merkert, Gudrun Göhring, Nico Lachmann, Andreas Martens, Axel Haverich, Ulrich Martin, Ruth Olmer
Format: Article
Language:English
Published: Elsevier 2020-03-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S187350612030009X

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http://www.sciencedirect.com/science/article/pii/S187350612030009X

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