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Stem Cell Res ; 64: 102928, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-36194907

RESUMO

Dilated cardiomyopathy (DCM) is a heterogeneous cardiac disorder characterized by left ventricular dilatation and dysfunction. Mutations in dozens of cardiac genes have been connected to the development of DCM including the filamin C gene (FLNC). We generated two induced pluripotent stem cell (iPSCs) lines from DCM patients carrying single missense heterozygote FLNC mutations (c.6689G > A and c.3745G > A). Both lines expressed high levels of pluripotency markers, differentiated into derivatives of the three germ layers and possessed normal karyotypes. The derived iPSC lines can serve as powerful tools to model DCM in vitro and as a platform for therapeutic development.


Assuntos
Cardiomiopatia Dilatada , Células-Tronco Pluripotentes Induzidas , Humanos , Células-Tronco Pluripotentes Induzidas/metabolismo , Cardiomiopatia Dilatada/genética , Heterozigoto , Filaminas/genética , Filaminas/metabolismo , Mutação/genética
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