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Stem Cell Res ; 58: 102616, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34883448

RESUMO

Loss-of-function (LoF) mutations in FLNC are strongly associated with dilated cardiomyopathy (DCM). Using CRISPR/Cas9 mediated edition in an healthy donor derived iPSC (ICAN-403.3) we subcloned 1 iPSC line harboring LoF mutation in FLNC. All lines are fully pluripotent and isogenic except at edited site where it presents a homozygous (ICAN-FLNC42.1) deletion of splice site leading to skipping of exon 42 traduced into a short filamin form with reduced expression in derived cardiomyocytes. This line would serve for FLNC mutation DCM modeling after differentiation into cardiocytes or beating organoids.


Assuntos
Cardiomiopatia Dilatada , Células-Tronco Pluripotentes Induzidas , Sistemas CRISPR-Cas/genética , Cardiomiopatia Dilatada/genética , Éxons/genética , Filaminas/genética , Filaminas/metabolismo , Humanos , Células-Tronco Pluripotentes Induzidas/metabolismo , Mutação
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