Generation and characterization of novel induced pluripotent stem cell (iPSC) lines derived from three symptomatic carriers of a pathogenic MYH11 variant and two non-carrier relatives

Generation and characterization of novel induced pluripotent stem cell (iPSC) lines derived from three symptomatic carriers of a pathogenic MYH11 variant and two non-carrier relatives

A novel pathogenic variant in the MYH11 gene (c.4559+1G>A) leading to exon 32 skipping, is a rare cause of familial aortic aneurysms and dissections (fTAAD). The phenotype has proven highly variable with reduced penetrance. Here, we report human induced pluripotent stem cell (iPSC) lines, generat...

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Bibliográfalaš dieđut
Váldodahkkit: Aria Atash, Maarten Jan Cramer, Barend Mees, Pieter A. Doevendans, Joost P.G. Sluijter, Francesca Stillitano
Materiálatiipa: Artihkal
Giella:English
Almmustuhtton: Elsevier 2025-02-01
Ráidu:Stem Cell Research
Liŋkkat:http://www.sciencedirect.com/science/article/pii/S1873506124003283

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http://www.sciencedirect.com/science/article/pii/S1873506124003283

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