Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells
Open accessAbstract
Familial hypertrophic cardiomyopathy (HCM) is a prevalent hereditary cardiac disorder linked to arrhythmia and sudden cardiac death. While the causes of HCM have been identified as genetic mutations in the cardiac sarcomere, the pathways by which sarcomeric mutations engender myocyte hypertrophy and electrophysiological abnormalities are not understood. To elucidate the mechanisms underlying HCM development, we generated patient-specific induced pluripotent stem cell cardiomyocytes (iPSC-CMs) from a ten-member family cohort carrying a hereditary HCM missense mutation (Arg663His) in the MYH7 gene. Diseased iPSC-CMs recapitulated numerous aspects of the HCM phenotype including cellular enlargement and contractile arrhythmia at the single-cell level. Calcium (Ca(2+)) imaging indicated dysregulation of Ca(2+) cycling and elevation in intracellular Ca(2+) ([Ca(2+)](i)) are central mechanisms for disease pathogenesis. Pharmacological restoration of Ca(2+) homeostasis prevented development of hypertrophy and electrophysiological irregularities. We anticipate that these findings will help elucidate the mechanisms underlying HCM development and identify novel therapies for the disease.
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Physiological and genetic differences between humans and animals lead to potential differences in function, mechanisms, and signaling pathways.
“The physiological and genetic differences between human and animals leads to potential differences in terms of function, mechanisms, and signaling pathways [14,15].”
From Utility of iPSC-Derived Cells for Disease Modeling, Drug Development, and Cell Therapy (2022) · cites this paper as [14]
The Discussion (page unavailable) explains that human and mouse hearts predominantly use different myosin isoforms and that the same HCM mutation can have different functional consequences in those isoforms. This supports the claim about potential functional differences, but the paper does not establish a general human–animal difference in mechanisms or signaling pathways. (LLM, conf=0.86)
Experimental — accuracy not yet measurediPSC-derived cardiomyocytes from a patient with a MYH7 mutation recapitulated HCM phenotypes including enlarged cellular size, disrupted sarcomere structures, contractile arrhythmia, and dysregulation of Ca2+ cycling.
“Research using iPSC-derived cardiomyocytes from a patient with a mutation in MYH7 recapitulated HCM phenotypes including enlarged cellular size, disrupted sarcomere structures, contractile arrhythmia, and dysregulation of Ca2+ cycling.”
From Utility of iPSC-Derived Cells for Disease Modeling, Drug Development, and Cell Therapy (2022) · cites this paper as [14]
Using patient-specific hiPSC-CMs, researchers can model various CVDs such as long QT syndrome, LV non-compaction, hypertrophic cardiomyopathy, and dilated cardiomyopathy.
“In addition, using patient-specific hiPSC-CMs, researchers are able to model various CVDs such as long QT syndrome, LV non-compaction, hypertrophic cardiomyopathy and dilated cardiomyopathy [217,423,424].”
From Cardiovascular disease models: A game changing paradigm in drug discovery and screening (2019) · cites this paper as [217]
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Cites
A Calcineurin-Dependent Transcriptional Pathway for Cardiac Hypertrophy
Molkentin, J. D., Lu, J., Antos, C. L., Markham, B. E., Richardson, J. A., Robbins, J. M., Grant, S. R., & Olson, E. N. (1998) · Cell · doi:10.1016/s0092-8674(00)81573-1 · Cited by 2,566 · see citing works
Prevalence of Hypertrophic Cardiomyopathy in a General Population of Young Adults
Maron, B. J., Gardin, J. M., Flack, J. M., Gidding, S. S., Kurosaki, T., & Bild, D. E. (1995) · Circulation · doi:10.1161/01.cir.92.4.785 · Cited by 2,274 · see citing works
Hypertrophic Cardiomyopathy: A Systematic Review
Maron, B. J. (2002) · JAMA · doi:10.1001/jama.287.10.1308 · Cited by 2,224 · see citing works
Sudden Death in Young Competitive Athletes: Clinical, Demographic, and Pathological Profiles
Maron, B. J. (1996) · JAMA · doi:10.1001/jama.1996.03540030033028 · Cited by 1,693 · see citing works
Maron, M. S., Olivotto, I., Betocchi, S., Casey, S. A., Lesser, J. R., Losi, M. A., Cecchi, F., & Maron, B. J. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa021332 · Cited by 1,466 · see citing works
Human cardiovascular progenitor cells develop from a KDR+ embryonic-stem-cell-derived population
Yang, L., Soonpaa, M. H., Adler, E. D., Roepke, T. K., Kattman, S. J., Kennedy, M., Henckaerts, E., Bonham, K., Abbott, G. W., Linden, R. M., et al. (2008) · Nature · doi:10.1038/nature06894 · Cited by 1,389 · see citing works
Calcium cycling and signaling in cardiac myocytes.
Bers, D. (2008) · Annual Review of Physiology · doi:10.1146/annurev.physiol.70.113006.100455 · Cited by 1,386 · see citing works
Self-citationGeisterfer-Lowrance, A. A. T., Kass, S., Tanigawa, G., Vosberg, H.-P., McKenna, W., Seidman, C. E., & Seidman, J. G. (1990) · Cell · doi:10.1016/0092-8674(90)90274-i · Cited by 1,380 · see citing works
Patient-Specific Induced Pluripotent Stem-Cell Models for Long-QT Syndrome
Moretti, A., Bellin, M., Welling, A., Jung, C. B., Lam, J. T., Bott-Flügel, L., Dorn, T., Goedel, A., Höhnke, C., Hofmann, F., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0908679 · Cited by 1,251 · see citing works
ASYMMETRICAL HYPERTROPHY OF THE HEART IN YOUNG ADULTS
Teare, D. (1958) · Heart · doi:10.1136/hrt.20.1.1 · Cited by 1,082 · see citing works
Modelling the long QT syndrome with induced pluripotent stem cells
Itzhaki, I., Maizels, L., Huber, I., Zwi-Dantsis, L., Caspi, O., Winterstern, A., Feldman, O., Gepstein, A., Arbel, G., Hammerman, H., et al. (2011) · Nature · doi:10.1038/nature09747 · Cited by 1,049 · see citing works
The Genetic Basis for Cardiomyopathy
Seidman, J. G., & Seidman, C. E. (2001) · Cell · doi:10.1016/s0092-8674(01)00242-2 · Cited by 1,043 · see citing works
Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy
Sun, N., Yazawa, M., Liu, J., Han, L., Sanchez-Freire, V., Abilez, O. J., Navarrete, E. G., Hu, S., Wang, L., Lee, A., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003552 · Cited by 696 · see citing works
Self-citationPatient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome
Carvajal-Vergara, X., Sevilla, A., D’Souza, S. L., Ang, Y.-S., Schaniel, C., Lee, D.-F., Yang, L., Kaplan, A. D., Adler, E. D., Rozov, R., et al. (2010) · Nature · doi:10.1038/nature09005 · Cited by 690 · see citing works
Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome
Yazawa, M., Hsueh, B., Jia, X., Pasca, A. M., Bernstein, J. A., Hallmayer, J., & Dolmetsch, R. E. (2011) · Nature · doi:10.1038/nature09855 · Cited by 677 · see citing works
Burridge, P. W., Keller, G., Gold, J. D., & Wu, J. C. (2012) · Cell Stem Cell · doi:10.1016/j.stem.2011.12.013 · Cited by 670 · see citing works
Self-citationAdabag, A. S., Maron, B. J., Appelbaum, E., Harrigan, C. J., Buros, J. L., Gibson, C. M., Lesser, J. R., Hanna, C. A., Udelson, J. E., Manning, W. J., et al. (2008) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2007.11.071 · Cited by 662 · see citing works
Feeder-free derivation of induced pluripotent stem cells from adult human adipose stem cells
Sun, N., Panetta, N. J., Gupta, D. M., Wilson, K. D., Lee, A., Jia, F.-J., Hu, S.-J., Cherry, A., Robbins, R., Longaker, M., et al. (2009) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.0908450106 · Cited by 539 · see citing works
Self-citationPrevention of Cardiac Hypertrophy in Mice by Calcineurin Inhibition
Sussman, M. A., Lim, H. W., Gude, N. A., Taigen, T. L., Olson, E. N., Robbins, J. M., Colbert, M. C., Gualberto, A., Wieczorek, D. F., & Molkentin, J. D. (1998) · Science · doi:10.1126/science.281.5383.1690 · Cited by 461 · see citing works
Species- and age-dependent changes in the relative amounts of cardiac myosin isoenzymes in mammals
Lompré, A., Mercadier, J.-J., Wisnewsky, C., Bouveret, P., Pantaloni, C., d’Albis, A., & Schwartz, K. (1981) · Developmental Biology · doi:10.1016/0012-1606(81)90396-1 · Cited by 350 · see citing works
Molecular Mechanisms of Inherited Cardiomyopathies
Fatkin, D., & Graham, R. M. (2002) · Physiological Reviews · doi:10.1152/physrev.00012.2002 · Cited by 325 · see citing works
Single cell transcriptional profiling reveals heterogeneity of human induced pluripotent stem cells
Narsinh, K. H., Sun, N., Sánchez-Freire, V., Lee, A. S., de Almeida, P. E., Hu, S., Jan, T. A., Wilson, K. D., Leong, D. E., Rosenberg, J., et al. (2011) · Journal of Clinical Investigation · doi:10.1172/jci44635 · Cited by 277 · see citing works
Self-citationThe L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model
Semsarian, C., Ahmad, I., Giewat, M., Georgakopoulos, D., Schmitt, J. P., McConnell, B. K., Reiken, S. R., Mende, U., Marks, A. R., Kass, D. A., et al. (2002) · Journal of Clinical Investigation · doi:10.1172/jci14677 · Cited by 275 · see citing works
Transcriptional and Functional Profiling of Human Embryonic Stem Cell-Derived Cardiomyocytes
Cao, F., Wagner, R. A., Wilson, K. D., Xie, X., Fu, J., Drukker, M., Lee, A. S., Li, R. A., Gambhir, S. S., Weissman, I. L., et al. (2008) · PLoS ONE · doi:10.1371/journal.pone.0003474 · Cited by 234 · see citing works
Self-citationThe L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model
Semsarian, C., Ahmad, I., Giewat, M., Georgakopoulos, D., Schmitt, J. P., McConnell, B. K., Reiken, S. R., Mende, U., Marks, A. R., Kass, D. A., et al. (2002) · Journal of Clinical Investigation · doi:10.1172/jci200214677 · Cited by 233 · see citing works
An abnormal Ca2+ response in mutant sarcomere protein–mediated familial hypertrophic cardiomyopathy
Fatkin, D., McConnell, B. K., Mudd, J. O., Semsarian, C., Moskowitz, I. P. G., Schöen, F. J., Giewat, M., Seidman, C. E., & Seidman, J. G. (2000) · Journal of Clinical Investigation · doi:10.1172/jci11093 · Cited by 228 · see citing works
Berlin, J. R., Cannell, M. B., & LEDERER, W. J. (1989) · Circulation Research · doi:10.1161/01.res.65.1.115 · Cited by 226 · see citing works
Tyska, M. J., Hayes, E., Giewat, M., Seidman, C. E., Seidman, J. G., & Warshaw, D. M. (2000) · Circulation Research · doi:10.1161/01.res.86.7.737 · Cited by 223 · see citing works
Phenotypic diversity in hypertrophic cardiomyopathy
Arad, M. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.20.2499 · Cited by 183 · see citing works
Knollmann, B. C., Kirchhof, P. F., Sirenko, S., Degen, H., Greene, A. E., Schober, T., Mackow, J. C., Fabritz, L., Potter, J. D., & Morad, M. (2003) · Circulation Research · doi:10.1161/01.res.0000059562.91384.1a · Cited by 165 · see citing works
Gruver, E. J., Fatkin, D., Dodds, G., KISSLO, J. A., Maron, B. J., Seidman, J. G., & Seidman, C. E. (1999) · The American Journal of Cardiology · doi:10.1016/s0002-9149(99)00251-9 · Cited by 115 · see citing works
Fatkin, D., Christe, M. E., Aristizábal, O., McConnell, B. K., Srinivasan, S., Schöen, F. J., Seidman, C. E., Turnbull, D. H., & Seidman, J. G. (1999) · Journal of Clinical Investigation · doi:10.1172/jci4631 · Cited by 105 · see citing works
Somatic events modify hypertrophic cardiomyopathy pathology and link hypertrophy to arrhythmia
Wolf, C. M., Moskowitz, I. P. G., Arno, S., Branco, D. M., Semsarian, C., Bernstein, S., PETERSON, M. W., Maida, M., Morley, G. E., Fishman, G. I., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0509145102 · Cited by 90 · see citing works
Marian, A. J., Zhao, G., Seta, Y., Roberts, R., & Yu, Q. (1997) · Circulation Research · doi:10.1161/01.res.81.1.76 · Cited by 88 · see citing works
Lowey, S., Lesko, L. M., Rovner, A. S., Hodges, A. R., White, S. L., Low, R. B., Rincón, M., Gulick, J. M., & Robbins, J. M. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m800554200 · Cited by 85 · see citing works
Derivation of Human Induced Pluripotent Stem Cells for Cardiovascular Disease Modeling
Narsinh, K., Narsinh, K. H., & Wu, J. C. (2011) · Circulation Research · doi:10.1161/circresaha.111.240374 · Cited by 68 · see citing works
Self-citationFerrari, G. M. D., Viola, M., D’Amato, E., Antolini, R., & Forti, S. (1995) · Circulation · doi:10.1161/01.cir.91.10.2510 · Cited by 66 · see citing works
Iyer, V., Hajjar, R. J., & Armoundas, A. A. (2007) · Circulation Research · doi:10.1161/01.res.0000258468.31815.42 · Cited by 37 · see citing works
Hossain, M. M., Shimizu, E., Saito, M., et al. (2010) · The Analyst · doi:10.1039/c0an00208a · Cited by 36 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy
Marian, A. J., & Braunwald, E. (2017) · Circulation Research · doi:10.1161/circresaha.117.311059 · Cited by 1,403 · see citing works
Engineering Adolescence: Maturation of Human Pluripotent Stem Cell–Derived Cardiomyocytes
Yang, X., Pabon, L., & Murry, C. E. (2014) · Circulation Research · doi:10.1161/circresaha.114.300558 · Cited by 939 · see citing works
Wang, G., McCain, M. L., Yang, L., He, A., Pasqualini, F. S., Agarwal, A., Yuan, H., Jiang, D., Zhang, D., Zangi, L., et al. (2014) · Nature Medicine · doi:10.1038/nm.3545 · Cited by 837 · see citing works
Pierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., et al. (2018) · Circulation · doi:10.1161/cir.0000000000000606 · Cited by 654 · see citing works
Engineered In Vitro Disease Models
Benam, K. H., Dauth, S., Hassell, B., Herland, A., Jain, A., Jang, K.-J., Karalis, K., Kim, H. J., MacQueen, L., Mahmoodian, R., et al. (2015) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-012414-040418 · Cited by 554 · see citing works
Karakikes, I., Ameen, M., Termglinchan, V., & Wu, J. C. (2015) · Circulation Research · doi:10.1161/circresaha.117.305365 · Cited by 478 · see citing works
Self-citationSharma, A., Burridge, P. W., McKeithan, W. L., Serrano, R., Shukla, P., Sayed, N., Churko, J. M., Kitani, T., Wu, H., Holmström, A., et al. (2017) · Science Translational Medicine · doi:10.1126/scitranslmed.aaf2584 · Cited by 404 · see citing works
Self-citationDenning, C., Borgdorff, V., Crutchley, J., Firth, K. S. A., George, V., Kalra, S., Kondrashov, A., Hoang, M. D., Mosqueira, D., Patel, A., et al. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2015.10.014 · Cited by 293 · see citing works
Drawnel, F. M., Boccardo, S., Prummer, M., Delobel, F., Graff, A., Weber, M., Gérard, R., Badi, L., Kam-Thong, T., Bu, L., et al. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.09.055 · Cited by 247 · see citing works
Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy
Lee, J., Termglinchan, V., Diecke, S., Itzhaki, I., Lam, C. K., Garg, P., Lau, E., Greenhaw, M., Seeger, T., Wu, H., et al. (2019) · Nature · doi:10.1038/s41586-019-1406-x · Cited by 222 · see citing works
Self-citationCardiovascular disease models: A game changing paradigm in drug discovery and screening
Savoji, H., Mohammadi, M. H., Rafatian, N., Toroghi, M. K., Wang, E. Y., Zhao, Y., Korolj, A., Ahadian, S., & Radisic, M. (2019) · Biomaterials · doi:10.1016/j.biomaterials.2018.09.036 · Cited by 223 · see citing works
Induced pluripotent stem cells: at the heart of cardiovascular precision medicine
Chen, I. Y., Matsa, E., & Wu, J. C. (2016) · Nature Reviews Cardiology · doi:10.1038/nrcardio.2016.36 · Cited by 191 · see citing works
Self-citationStudy familial hypertrophic cardiomyopathy using patient-specific induced pluripotent stem cells
Han, L., Li, Y., Tchao, J., Kaplan, A. D., Lin, B., Li, Y., Mich-Basso, J., Lis, A., Hassan, N., London, B., et al. (2014) · Cardiovascular Research · doi:10.1093/cvr/cvu205 · Cited by 191 · see citing works
Self-citationCaspi, O., Huber, I., Gepstein, A., Arbel, G., Maizels, L., Boulos, M., & Gepstein, L. (2013) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.113.000188 · Cited by 186 · see citing works
Wu, H., Lee, J., Vincent, L. G., Wang, Q., Gu, M., Lan, F., Churko, J. M., Sallam, K. I., Matsa, E., Sharma, A., et al. (2015) · Cell Stem Cell · doi:10.1016/j.stem.2015.04.020 · Cited by 177 · see citing works
Self-citationTzatzalos, E., Abilez, O. J., Shukla, P., & Wu, J. C. (2016) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2015.09.010 · Cited by 162 · see citing works
Self-citationComplex Tissue and Disease Modeling using hiPSCs
Passier, R., Orlova, V., & Mummery, C. (2016) · Cell Stem Cell · doi:10.1016/j.stem.2016.02.011 · Cited by 142 · see citing works
Li, S., Pan, H., Tan, C., Sun, Y., Song, Y., Zhang, X., Yang, W., Wang, X., Li, D., Dai, Y., et al. (2018) · Stem Cell Reports · doi:10.1016/j.stemcr.2018.01.013 · Cited by 106 · see citing works
Thermoreversible Hyaluronic Acid‐PNIPAAm Hydrogel Systems for 3D Stem Cell Culture
Ekerdt, B. L., Fuentes, C. M., Lei, Y., Adil, M. M., Ramasubramanian, A., Segalman, R. A., & Schaffer, D. V. (2018) · Advanced Healthcare Materials · doi:10.1002/adhm.201800225 · Cited by 117 · see citing works
Matsa, E., Ahrens, J. H., & Wu, J. C. (2016) · Physiological Reviews · doi:10.1152/physrev.00036.2015 · Cited by 105 · see citing works
Self-citationTelomere shortening is a hallmark of genetic cardiomyopathies
Chang, A. C. Y., Chang, A. C. H., Kirillova, A., Sasagawa, K., Su, W., Weber, G., Lin, J., Termglinchan, V., Karakikes, I., Seeger, T., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1714538115 · Cited by 91 · see citing works
Self-citationErgir, E., Oliver-De La Cruz, J., Fernandes, S., Cassani, M., Niro, F., Pereira-Sousa, D., Vrbský, J., Vinarský, V., Perestrelo, A. R., Debellis, D., et al. (2022) · Scientific Reports · doi:10.1038/s41598-022-22225-w · Cited by 99 · see citing works
Utility of iPSC-Derived Cells for Disease Modeling, Drug Development, and Cell Therapy
Nicholson, M. W., Ting, C.-Y., Chan, D. Z. H., Cheng, Y.-C., Lee, Y.-C., Hsu, C.-C., Huang, C.-Y., & Hsieh, P. C. H. (2022) · Cells · doi:10.3390/cells11111853 · Cited by 66 · see citing works
“This iPSC-derived model played an important role in understanding the effect of MYH7 mutation [14,15].”
BackgroundHuman heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes
Giacomelli, E., Mummery, C. L., & Bellin, M. (2017) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-017-2546-5 · Cited by 60 · see citing works
Josowitz, R., Mulero-Navarro, S., Rodriguez, N. A., Falce, C., Cohen, N., Ullian, E. M., Weiss, L. A., Rauen, K. A., Sobie, E. A., & Gelb, B. D. (2016) · Stem Cell Reports · doi:10.1016/j.stemcr.2016.07.018 · Cited by 45 · see citing works
Lam, C. K., Tian, L., Belbachir, N., Wnorowski, A., Shrestha, R., Ma, N., Kitani, T., Rhee, J.-W., & Wu, J. C. (2019) · Circulation Research · doi:10.1161/circresaha.118.314202 · Cited by 39 · see citing works
Self-citationChanthra, N., Abe, T., Miyamoto, M., Sekiguchi, K., Kwon, C., Hanazono, Y., & Uosaki, H. (2020) · Scientific Reports · doi:10.1038/s41598-020-61163-3 · Cited by 36 · see citing works
- Authors
- Lan, F., Lee, A. S., Liang, P., Sanchez-Freire, V., Nguyen, P. K., Wang, L., Han, L., Yen, M., Wang, Y., Sun, N., Abilez, O. J., Hu, S., Ebert, A. D., Navarrete, E. G., Simmons, C. S., Wheeler, M., Pruitt, B., Lewis, R., Yamaguchi, Y., Ashley, E. A., Bers, D. M., Robbins, R. C., Longaker, M. T., & Wu, J. C.
- Affiliations
- Stanford Medicine (US)
- Stanford University (US)
- The University of Osaka (JP)
- University of California, Davis (US)
- Corresponding author
- Wu, Joseph C.
- ORCID
- Venue
- Cell Stem Cell
- Publisher
- Elsevier BV
- Published
- 2013-01
- Volume
- 12
- Issue
- 1
- Pages
- 101-113
- ISSN
- 1875-9777 (ISSN-L)
- 1934-5909
- PMC
- PMC3638033
- OpenAlex
- W2108903695
- Cited by
- 667
- References
- 39
- Citations by year
- 2026: 18 · 2025: 25 · 2024: 42 · 2023: 53 · 2022: 43 · 2021: 72 · 2020: 48 · 2019: 55 · 2018: 67 · 2017: 49 · 2016: 60 · 2015: 63 · 2014: 52 · 2013: 19
- FWCI
- 43.97
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell stem cell (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institutes of Health (1dp2od004437-01)
- National Heart, Lung, and Blood Institute (U01HL099776, RC1HL100490, R01HL113006)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Pluripotent Stem Cells Research
- Keywords
- familial hypertrophic cardiomyopathy, MYH7, calcium handling, intracellular calcium, iPSC-derived cardiomyocytes, myocyte hypertrophy, sarcomeric mutations, sudden cardiac death
- MeSH terms
- Calcium, Cells, Cultured, Humans, Myosin Heavy Chains, Mutation, Missense, Cardiac Myosins, Cardiomyopathy, Hypertrophic, Familial, Induced Pluripotent Stem Cells
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