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Genome editing of novel variants associated with cardiomyopathy using CRISPR-Cas9 system

  • Genome editing is achieved using custom-engineered nucleases into cells, in which they create targeted double-strand breaks (DSB) at a genomic site of interest for the purpose of creating insertion/deletion mutations (indels). Clustered regularly interspaced short palindromic repeat (CRISPR)/Cas systems have been demonstrated to achieve genome editing in human induced pluripotent stem cells (iPSCs). We adopt this method to introduce point mutations in iPSCs newly discovered cardiomyopathy genes.
  • We then differentiated iPSCs into cardiomyocytes by established protocols. Human cardiomyocytes derived from iPSCs are used as tool to understand mechanisms and screening drugs.