īirket MJ, Raibaud S, Lettieri M, Adamson AD, Letang V, Cervello P, Redon N, Ret G, Viale S, Wang B, Biton B, Guillemot JC, Mikol V, Leonard JP, Hanley NA, Orsini C, Itier JM (2019) A human stem cell model of Fabry disease implicates LIMP-2 accumulation in cardiomyocyte pathology. īelbachir N, Portero V, Al Sayed ZR, Gourraud JB, Dilasser F, Jesel L, Guo H, Wu H, Gaborit N, Guilluy C, Girardeau A, Bonnaud S, Simonet F, Karakachoff M, Pattier S, Scott C, Burel S, Marionneau C, Chariau C, Gaignerie A, David L, Genin E, Deleuze JF, Dina C, Sauzeau V, Loirand G, Baró I, Schott JJ, Probst V, Wu JC, Redon R, Charpentier F, Le Scouarnec S (2019) RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome. Īwad MM, Calkins H, Judge DP (2008) Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Īoi T, Stacey G (2015) Impact of national and international stem cell banking initiatives on progress in the field of cell therapy: IABS-JST joint workshop: summary for session 5. This overview aims to aid better understanding of the utility of iPSC-CM models, their various features, and future prospects.Ībriel H, Rougier JS, Jalife J (2015) Ion channel macromolecular complexes in cardiomyocytes: roles in sudden cardiac death. This review covers approaches for studying RCDs and iPSC-CM models generated so far for different RCDs, such as long QT syndrome (LQT), short QT syndrome (SQT), Brugada syndrome (BrS), arrhythmogenic right ventricular cardiomyopathy (ARVC), and other rare diseases accomplished by cardiac-related syndromes like Fabry disease (FD) and Marfan syndrome (MFS). In light of these advantages, iPSC-CMs evolved as an effective tool for modeling cardiac disease phenotypes and accurately evaluating the toxicity of potential therapeutic compounds. Human iPSC-CMs are derived from a patient’s somatic cells and thus recapitulate a personalized genomics background, serving as patient-specific disease models. Induced pluripotent stem cells (iPSCs) present a state-of-the-art precision medicine approach which recently made contributions to the study of RCDs via patient-specific iPSC-derived cardiomyocytes (iPSC-CMs). Moreover, precision medicine strategies provide benefit to patients with “common” symptoms but carry in rare genetic variants. Precision medicine may offer opportunities for designing patient-specific therapies in particular for carriers of variants with undetermined significance. Due to the vast variety of underlying genetic mutations and the relatively low patient population, RCDs present additional challenges for diagnosis. Samples can be banked locally or reposited into the HIHG CGT biorepository for long-term storage.Rare cardiovascular diseases (RCDs) refer to those cardiovascular diseases that display a low prevalence as well as morbidity. This facility is located in the same area as the microscopy core facility. Hussman Institute for Human Genomics Center for Molecular Genetics with a dedicated tissue culture suite which includes multiple tissue culture grade biocontainiment hoods, biocontained fluorescent and dissecting microscopes for imaging and iPSC colony isolation, multiple CO2 and Trigas Incubators, an Axion Maestro multielectrode array reader, a Sartorius IncuCyte Zoom live cell imaging system, an EVOS fl auto 2.0 fluorescent imaging system, an Amaxa 4D-Nucleofector, and an Accuri C6 flow cytometer. The IPSC Core facility is located within the John P. In addition, the iPSC Core Facility provides training and consultation services for the incorporation of iPSC-based approaches in disease modeling, including the development and optimization of differentiation approaches for multiple cell types, such as cortical neurons, sensory neurons, astrocytes, microglia, and cardiomyocytes. The iPSC Core Facility is equipped for the specialized production, maintenance, expansion, and preservation of iPSC lines from a variety of different cell types. Given the promise of these cells, the iPSC Core Facility was established to support HIHG investigator and the broader University of Miami research community in the development and implementation of human stem cell-based models of disease. These stem cells have the same genetic makeup as the individual from whom they were developed providing an unparalleled opportunity to study the impact of specific genetic variants on disease development.
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