Functional Annotation of TNNT2 Variants of Uncertain Significance With Genome-Edited Cardiomyocytes

Circulation. 2018 Dec 11;138(24):2852-2854. doi: 10.1161/CIRCULATIONAHA.118.035028.
No abstract available

Keywords: cardiomyocyte; cardiomyopathy; gene mutation; genetics; genome editing; stem cell.

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Action Potentials / drug effects
  • CRISPR-Cas Systems / genetics
  • Cardiomyopathy, Dilated / genetics
  • Cardiomyopathy, Dilated / pathology
  • Gene Editing / methods*
  • Humans
  • Induced Pluripotent Stem Cells / cytology
  • Isoproterenol / pharmacology
  • Myocytes, Cardiac / cytology
  • Myocytes, Cardiac / drug effects
  • Myocytes, Cardiac / metabolism
  • Polymorphism, Single Nucleotide
  • Troponin T / genetics*

Substances

  • TNNT2 protein, human
  • Troponin T
  • Isoproterenol