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Generation of Marfan syndrome-specific induced pluripotent stem cells harboring FBN1 mutations.

Stem cell research - 1 Oct 2024

Vacante Francesca, Venkateshappa Ravichandra, Htet Min, Yan Christopher, Wu Joseph C

Abstract excerpt

Marfan syndrome (MFS) is a hereditary condition caused by mutations in the FBN1 gene. Genetic mutations in the FBN1 locus impact the function of the encoded protein, Fibrillin 1, a structural molecule forming microfibrils found in the connective tissue. MFS patients develop severe cardiovascular complications including thoracic aortic aneurysm and aortic dissection, which predispose them to an enhanced risk of...

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Adipokines
Cell Differentiation
Cell Line
Fibrillin-1
Induced Pluripotent Stem Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Marfan Syndrome

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PMID: 39096853
DOI: 10.1016/j.scr.2024.103518

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Generation of Marfan syndrome-specific induced pluripotent stem cells harboring FBN1 mutations.PMID 39096853Read ↗

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

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