{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1360290617868417536.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.18632/aging.101247"}},{"identifier":{"@type":"URI","@value":"https://www.aging-us.com/lookup/doi/10.18632/aging.101247"}},{"identifier":{"@type":"PMID","@value":"28562313"}},{"identifier":{"@type":"HANDLE","@value":"11343/197530"}}],"resourceType":"学術雑誌論文(journal article)","dc:title":[{"@value":"Friedreich’s ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency"}],"description":[{"notation":[{"@value":"We sought to identify the impacts of Friedreich's ataxia (FRDA) on cardiomyocytes. FRDA is an autosomal recessive degenerative condition with neuronal and non-neuronal manifestations, the latter including progressive cardiomyopathy of the left ventricle, the leading cause of death in FRDA. Little is known about the cellular pathogenesis of FRDA in cardiomyocytes. Induced pluripotent stem cells (iPSCs) were derived from three FRDA individuals with characterized GAA repeats. The cells were differentiated into cardiomyocytes to assess phenotypes. FRDA iPSC- cardiomyocytes retained low levels of FRATAXIN (FXN) mRNA and protein. Electrophysiology revealed an increased variation of FRDA- cardiomyocyte beating rates which was prevented by addition of nifedipine, suggestive of a calcium handling deficiency. Finally, calcium imaging was performed and we identified small amplitude, diastolic and systolic calcium transients confirming a deficiency in calcium handling. We defined a robust FRDA cardiac-specific electrophysiological profile in patient-derived iPSCs which could be used for high throughput compound screening. This cell-specific signature will contribute to the identification and screening of novel treatments for this life-threatening disease."}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1380290617868417546","@type":"Researcher","foaf:name":[{"@value":"Duncan E. Crombie"}],"jpcoar:affiliationName":[{"@value":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia"},{"@value":"Ophthalmology, Department of Surgery, the University of Melbourne, Melbourne, Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1380290617868417435","@type":"Researcher","foaf:name":[{"@value":"Claire L. Curl"}],"jpcoar:affiliationName":[{"@value":"Department of Physiology, the University of Melbourne, Melbourne, Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1380290617868417426","@type":"Researcher","foaf:name":[{"@value":"Antonia JA Raaijmakers"}],"jpcoar:affiliationName":[{"@value":"Department of Physiology, the University of Melbourne, Melbourne, Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1380290617868417420","@type":"Researcher","foaf:name":[{"@value":"Priyadharshini Sivakumaran"}],"jpcoar:affiliationName":[{"@value":"O’Brien Institute Department, St Vincent Institute of Medical Research, Fitzroy, Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1380290617868417539","@type":"Researcher","foaf:name":[{"@value":"Tejal Kulkarni"}],"jpcoar:affiliationName":[{"@value":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia"},{"@value":"Ophthalmology, Department of Surgery, the University of Melbourne, Melbourne, Australia"},{"@value":"Centre for Neural Engineering & Department of Electrical and Electronic Engineering, The University of Melbourne, Melbourne, Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1380290617868417541","@type":"Researcher","foaf:name":[{"@value":"Raymond CB Wong"}],"jpcoar:affiliationName":[{"@value":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia"},{"@value":"Ophthalmology, Department of Surgery, the University of Melbourne, Melbourne, Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1030003825583919360","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"40362537"},{"@type":"NRID","@value":"1000040362537"},{"@type":"NRID","@value":"9000345442244"},{"@type":"NRID","@value":"9000369737932"},{"@type":"NRID","@value":"9000259862631"},{"@type":"NRID","@value":"9000016320222"},{"@type":"NRID","@value":"9000259862358"},{"@type":"NRID","@value":"9000331448976"},{"@type":"NRID","@value":"9000022065020"},{"@type":"NRID","@value":"9000010282026"},{"@type":"NRID","@value":"9000240053934"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/7000008926"}],"foaf:name":[{"@value":"Itsunari Minami"}],"jpcoar:affiliationName":[{"@value":"Institute for Integrated Cell-Material Sciences, Kyoto University, Kyoto, Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1380290617868417437","@type":"Researcher","foaf:name":[{"@value":"Marguerite V. Evans-Galea"}],"jpcoar:affiliationName":[{"@value":"Bruce Lefroy Centre for Genetic Health Research, Murdoch Children’s Research Institute, & Department of Paediatrics, The University of Melbourne, Melbourne, Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1380290617868417427","@type":"Researcher","foaf:name":[{"@value":"Shiang Y. Lim"}],"jpcoar:affiliationName":[{"@value":"Ophthalmology, Department of Surgery, the University of Melbourne, Melbourne, Australia"},{"@value":"O’Brien Institute Department, St Vincent Institute of Medical Research, Fitzroy, Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1380290617868417538","@type":"Researcher","foaf:name":[{"@value":"Lea Delbridge"}],"jpcoar:affiliationName":[{"@value":"O’Brien Institute Department, St Vincent Institute of Medical Research, Fitzroy, Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1380290617868417436","@type":"Researcher","foaf:name":[{"@value":"Louise A. Corben"}],"jpcoar:affiliationName":[{"@value":"Bruce Lefroy Centre for Genetic Health Research, Murdoch Children’s Research Institute, & Department of Paediatrics, The University of Melbourne, Melbourne, Australia"},{"@value":"School of Psychological Sciences, Monash University, Frankston, Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1380290617868417411","@type":"Researcher","foaf:name":[{"@value":"Mirella Dottori"}],"jpcoar:affiliationName":[{"@value":"Centre for Neural Engineering & Department of Electrical and Electronic Engineering, The University of Melbourne, Melbourne, Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1380290617868417280","@type":"Researcher","foaf:name":[{"@value":"Norio Nakatsuji"}],"jpcoar:affiliationName":[{"@value":"Institute for Integrated Cell-Material Sciences, Kyoto University, Kyoto, Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1380290617868417557","@type":"Researcher","foaf:name":[{"@value":"Ian A. Trounce"}],"jpcoar:affiliationName":[{"@value":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia"},{"@value":"Ophthalmology, Department of Surgery, the University of Melbourne, Melbourne, Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1380290617868417547","@type":"Researcher","foaf:name":[{"@value":"Alex W. Hewitt"}],"jpcoar:affiliationName":[{"@value":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia"},{"@value":"Ophthalmology, Department of Surgery, the University of Melbourne, Melbourne, Australia"},{"@value":"Menzies Institute for Medical Research, School of Medicine, University of Tasmania, Hobart, Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1380290617868417544","@type":"Researcher","foaf:name":[{"@value":"Martin B. Delatycki"}],"jpcoar:affiliationName":[{"@value":"Bruce Lefroy Centre for Genetic Health Research, Murdoch Children’s Research Institute, & Department of Paediatrics, The University of Melbourne, Melbourne, Australia"},{"@value":"School of Psychological Sciences, Monash University, Frankston, Australia"},{"@value":"Victorian Clinical Genetics Services, Parkville, Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1380290617868417536","@type":"Researcher","foaf:name":[{"@value":"Martin F. Pera"}],"jpcoar:affiliationName":[{"@value":"Department of Anatomy and Neurosciences, the University of Melbourne, Florey Neuroscience & Mental Health Institute, Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1380290617868417548","@type":"Researcher","foaf:name":[{"@value":"Alice Pébay"}],"jpcoar:affiliationName":[{"@value":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia"},{"@value":"Ophthalmology, Department of Surgery, the University of Melbourne, Melbourne, Australia"}]}],"publication":{"publicationIdentifier":[{"@type":"EISSN","@value":"19454589"}],"prism:publicationName":[{"@value":"Aging"}],"dc:publisher":[{"@value":"Impact Journals, LLC"}],"prism:publicationDate":"2017-05-30","prism:volume":"9","prism:number":"5","prism:startingPage":"1440","prism:endingPage":"1452"},"reviewed":"false","url":[{"@id":"https://www.aging-us.com/lookup/doi/10.18632/aging.101247"}],"createdAt":"2017-05-30","modifiedAt":"2020-09-02","foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=Male","dc:title":"Male"},{"@id":"https://cir.nii.ac.jp/all?q=571","dc:title":"571"},{"@id":"https://cir.nii.ac.jp/all?q=induced%20pluripotent%20stem%20cells","dc:title":"induced pluripotent stem cells"},{"@id":"https://cir.nii.ac.jp/all?q=Induced%20Pluripotent%20Stem%20Cells","dc:title":"Induced Pluripotent Stem Cells"},{"@id":"https://cir.nii.ac.jp/all?q=Friedreich%E2%80%99s%20ataxia","dc:title":"Friedreich’s ataxia"},{"@id":"https://cir.nii.ac.jp/all?q=Action%20Potentials","dc:title":"Action Potentials"},{"@id":"https://cir.nii.ac.jp/all?q=Cell%20Separation","dc:title":"Cell Separation"},{"@id":"https://cir.nii.ac.jp/all?q=Cell%20Line","dc:title":"Cell 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