Cardiac disease modeling using induced pluripotent stem cell-derived human cardiomyocytes.

ABSTRACT: Causative mutations and variants associated with cardiac diseases have been found in genes encoding cardiac ion channels, accessory proteins, cytoskeletal components, junctional proteins, and signaling molecules. In most cases the functional evaluation of the genetic alteration has been carried out by expressing the mutated proteins in in-vitro heterologous systems. While these studies have provided a wealth of functional details that have greatly enhanced the understanding of the pathological mechanisms, it has always been clear that heterologous expression of the mutant protein bears the intrinsic limitation of the lack of a proper intracellular environment and the lack of pathological remodeling. The results obtained from the application of the next generation sequencing technique to pa

SUBMITTER: Dell'Era P 

PROVIDER: S-EPMC4369490 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature