Generation of an induced pluripotent stem cell (iPSC) line of a Marfan syndrome patient with a pathogenic FBN1 c.5372G > A (p.Cys1791Tyr) variant

Marfan syndrome (MFS) is a connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular system. Ruptured aortic aneurysms in MFS patients are associated with high mortality rates. MFS is typically caused by pathogenic variants in the fibrillin-1 (FBN1) gene....

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Bibliografiske detaljer

Principais autores:	Silke Peeters, Ivanna Fedoryshchenko, Laura Rabaut, Aline Verstraeten, Bart L. Loeys
Format:	Artigo
Sprog:	Inglês
Udgivet:	Elsevier 2023-04-01
Serier:	Stem Cell Research
Online adgang:	http://www.sciencedirect.com/science/article/pii/S1873506123000363
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