Induced Pluripotent Stem Cell-Derived Cardiomyocytes from a Patient with MYL2-R58Q-Mediated Apical Hypertrophic Cardiomyopathy Show Hypertrophy, Myofibrillar Disarray, and Calcium Perturbations.

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第一作者： Wei,Zhou

第一单位： Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, 55905, USA.

作者： Wei,Zhou ^[1] ; J Martijn,Bos ^[1] ; Dan,Ye ^[2] ; David J,Tester ^[1] ; Sybil,Hrstka ^[1] ; Joseph J,Maleszewski ^[2] ; Steve R,Ommen ^[1] ; Rick A,Nishimura ^[3] ; Hartzell V,Schaff ^[2] ; Chang Sung,Kim ^[2] ; Michael J,Ackerman ^[4]

作者单位： Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, 55905, USA. ^[1] Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, 55905, USA. ^[2] Department of Anatomic Pathology, Mayo Clinic, Rochester, MN, 55905, USA. ^[3] Department of Cardiovascular Surgery, Mayo Clinic, Rochester, MN, 55905, USA. ^[4] Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, 55905, USA. ackerman.michael@mayo.edu. ^[5] Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, 55905, USA. ackerman.michael@mayo.edu. ^[6] Department of Pediatrics/Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN, 55905, USA. ackerman.michael@mayo.edu. ^[7]

关键词 Calcium transients Disarray Hypertrophic cardiomyopathy (HCM)Induced pluripotent stem cell–derived cardiomyocytes (iPSC-CMs)L-type Ca2+ channel (LTCC)Myosin regulatory light chain (MYL2)R58Q