Article
Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy.
Nature communications - 29 Apr 2015
Karakikes Ioannis, Stillitano Francesca, Nonnenmacher Mathieu, Tzimas Christos, Sanoudou Despina, Termglinchan Vittavat, Kong Chi-Wing, Rushing Stephanie, Hansen Jens, Ceholski Delaine, Kolokathis Fotis, Kremastinos Dimitrios, Katoulis Alexandros, Ren Lihuan, Cohen Ninette, Gho Johannes M I H, Tsiapras Dimitrios, Vink Aryan, Wu Joseph C, Asselbergs Folkert W, Li Ronald A, Hulot Jean-Sebastien, Kranias Evangelia G, Hajjar Roger J
Abstract excerpt
A number of genetic mutations is associated with cardiomyopathies. A mutation in the coding region of the phospholamban (PLN) gene (R14del) is identified in families with hereditary heart failure. Heterozygous patients exhibit left ventricular dilation and ventricular arrhythmias. Here we generate induced pluripotent stem cells (iPSCs) from a patient harbouring the PLN R14del mutation and differentiate them into...
Topics
Join the communities discussing this publication.