Characterization of the CACNA1C-R518C Missense Mutation in the Pathobiology of Long-QT Syndrome Using Human Induced Pluripotent Stem Cell Cardiomyocytes Shows Action Potential Prolongation and L-Type Calcium Channel Perturbation.
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| Title: | Characterization of the CACNA1C-R518C Missense Mutation in the Pathobiology of Long-QT Syndrome Using Human Induced Pluripotent Stem Cell Cardiomyocytes Shows Action Potential Prolongation and L-Type Calcium Channel Perturbation. |
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| Authors: | Estes SI; Department of Molecular Pharmacology and Experimental Therapeutics (S.I.E., D.Y., W.Z., S.M.D., D.J.T., J.M.B., C.S.J.K., M.J.A.).; Windland Smith Rice Sudden Death Genomics Laboratory (S.I.E., D.Y., W.Z., S.M.D., D.J.T., J.M.B., C.S.J.K., M.J.A.)., Ye D; Department of Molecular Pharmacology and Experimental Therapeutics (S.I.E., D.Y., W.Z., S.M.D., D.J.T., J.M.B., C.S.J.K., M.J.A.).; Windland Smith Rice Sudden Death Genomics Laboratory (S.I.E., D.Y., W.Z., S.M.D., D.J.T., J.M.B., C.S.J.K., M.J.A.)., Zhou W; Department of Molecular Pharmacology and Experimental Therapeutics (S.I.E., D.Y., W.Z., S.M.D., D.J.T., J.M.B., C.S.J.K., M.J.A.).; Windland Smith Rice Sudden Death Genomics Laboratory (S.I.E., D.Y., W.Z., S.M.D., D.J.T., J.M.B., C.S.J.K., M.J.A.)., Dotzler SM; Department of Molecular Pharmacology and Experimental Therapeutics (S.I.E., D.Y., W.Z., S.M.D., D.J.T., J.M.B., C.S.J.K., M.J.A.).; Windland Smith Rice Sudden Death Genomics Laboratory (S.I.E., D.Y., W.Z., S.M.D., D.J.T., J.M.B., C.S.J.K., M.J.A.)., Tester DJ; Department of Molecular Pharmacology and Experimental Therapeutics (S.I.E., D.Y., W.Z., S.M.D., D.J.T., J.M.B., C.S.J.K., M.J.A.).; Windland Smith Rice Sudden Death Genomics Laboratory (S.I.E., D.Y., W.Z., S.M.D., D.J.T., J.M.B., C.S.J.K., M.J.A.).; Department of Cardiovascular Medicine, Division of Heart Rhythm Services (D.J.T., J.M.B., M.J.A.)., Bos JM; Department of Molecular Pharmacology and Experimental Therapeutics (S.I.E., D.Y., W.Z., S.M.D., D.J.T., J.M.B., C.S.J.K., M.J.A.).; Windland Smith Rice Sudden Death Genomics Laboratory (S.I.E., D.Y., W.Z., S.M.D., D.J.T., J.M.B., C.S.J.K., M.J.A.).; Department of Cardiovascular Medicine, Division of Heart Rhythm Services (D.J.T., J.M.B., M.J.A.)., Kim CSJ; Department of Molecular Pharmacology and Experimental Therapeutics (S.I.E., D.Y., W.Z., S.M.D., D.J.T., J.M.B., C.S.J.K., M.J.A.).; Windland Smith Rice Sudden Death Genomics Laboratory (S.I.E., D.Y., W.Z., S.M.D., D.J.T., J.M.B., C.S.J.K., M.J.A.)., Ackerman MJ; Department of Molecular Pharmacology and Experimental Therapeutics (S.I.E., D.Y., W.Z., S.M.D., D.J.T., J.M.B., C.S.J.K., M.J.A.).; Windland Smith Rice Sudden Death Genomics Laboratory (S.I.E., D.Y., W.Z., S.M.D., D.J.T., J.M.B., C.S.J.K., M.J.A.).; Department of Cardiovascular Medicine, Division of Heart Rhythm Services (D.J.T., J.M.B., M.J.A.).; Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology (M.J.A.), Mayo Clinic, Rochester, MN. |
| Source: | Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2019 Aug; Vol. 12 (8), pp. e002534. Date of Electronic Publication: 2019 Aug 20. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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