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Article

Generation of two human induced pluripotent stem cell (hiPSC) lines derived from unrelated Marfan Syndrome patients.

Stem cell research - 1 Jul 2021

Borsoi Juliana, Morato-Marques Mariana, de Araújo Tofoli Fabiano, Assis Pereira Lucas, Farinha-Arcieri Luis Ernesto, Delgado Sarafian Raquel, Alvarez Perez Ana Beatriz, Veiga Pereira Lygia

Abstract excerpt

Marfan Syndrome (MFS) is a pleiotropic and autosomal dominant condition caused by pathogenic variants in FBN1. Although fully penetrant, clinical variability is frequently observed among patients and there are only few genotype-phenotype correlations described so far. Here, we describe the generation and characterization of hiPSC lines derived from two unrelated MFS patients harboring heterozygous variants in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34062330
DOI: 10.1016/j.scr.2021.102407

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Generation of two human induced pluripotent stem cell (hiPSC) lines derived from unrelated Marfan Syndrome patients.PMID 34062330Read ↗

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