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

Stem cell research - 1 Apr 2023

Peeters Silke, Fedoryshchenko Ivanna, Rabaut Laura, Verstraeten Aline, Loeys Bart L

Abstract excerpt

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. Here, we report a generated induced pluripotent cell (iPSC) line of a MFS patient with a FBN1 c.5372G > A...

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PMID: 36801568
DOI: 10.1016/j.scr.2023.103050

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