Science and Research

Patient-specific hiPSC-derived cardiomyocytes indicate allelic and contractile imbalance as pathogenic factor in early-stage Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy (HCM) is often caused by heterozygous mutations in

  • Weber, N.
  • Montag, J.
  • Kowalski, K.
  • Iorga, B.
  • de la Roche, J.
  • Holler, T.
  • Wojciechowski, D.
  • Wendland, M.
  • Radocaj, A.
  • Mayer, A. K.
  • Brunkhorst, A.
  • Osten, F.
  • Burkart, V.
  • Piep, B.
  • Bodenschatz, A.
  • Gibron, P.
  • Schwanke, K.
  • Franke, A.
  • Thiemann, S.
  • Koroleva, A.
  • Pfanne, A.
  • Konsanke, M.
  • Fiedler, J.
  • Hegermann, J.
  • Wrede, C.
  • Mühlfeld, C.
  • Chichkov, B.
  • Fischer, M.
  • Thum, T.
  • Francino, A.
  • Martin, U.
  • Meißner, J.
  • Zweigerdt, R.
  • Kraft, T.

Keywords

  • Allelic imbalance
  • Contractile imbalance
  • Hypertrophic cardiomyopathy
  • R723G myosin mutation
  • hiPSC-derived cardiomyocytes
Publication details
DOI: 10.1016/j.yjmcc.2024.11.007
Journal: J Mol Cell Cardiol
Pages: 112-125 
Work Type: Original
Location: BREATH
Disease Area: General Lung and Other
Partner / Member: ITEM, MHH
Access-Number: 39647438

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