RESUMO
Hypertrophic cardiomyopathy (HCM) is the most common form of genetic heart disease and is characterized by abnormal thickening of the left ventricular wall and interventricular septum. Here we describe the generation of two induced pluripotent stem cell (iPSC) clones from a HCM patient, heterozygous for the p.Arg723Gly (c.2169C > G) mutation in the MYH7 gene. The generated iPSC clones may provide a useful resource for disease modelling to study the mechanisms underlying HCM pathogenesis in iPSC derived progenies, in particular cardiomyocytes.
Assuntos
Cardiomiopatia Hipertrófica , Células-Tronco Pluripotentes Induzidas , Miosinas Cardíacas/genética , Cardiomiopatia Hipertrófica/genética , Células Clonais , Humanos , Mutação , Miócitos Cardíacos , Cadeias Pesadas de Miosina/genéticaRESUMO
Interferon stimulated gene 15 (ISG15) is one of the most highly upregulated proteins in response to viral infection and is involved in numerous pathways with multiple mechanisms of actions. ISG15 deficiency has been reported to induce type I interferonopathy owing to defective negative regulation of IFN-I signalling as well as enhanced antiviral protection. Here, we have generated ISG15 knockout clones from human iPSCs, which provide useful cell resources to study mechanisms of ISG15 deficiency and gain more insight into the biological function of ISG15.
