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    Generation of an induced pluripotent stem cell line from a hypertrophic cardiomyopathy patient with a pathogenic myosin binding protein C (MYBPC3) p.Arg502Trp mutation by Mira Holliday, Samantha Barratt Ross, Seakcheng Lim, Christopher Semsarian

    Published 2018-12-01
    “…This line is a useful resource for studying and modeling hypertrophic cardiomyopathy.Resource tableUnlabelled TableUnique stem cell line identifierMCCI0003i-HCMAlternative name(s) of stem cell lineIK1InstitutionCentenary InstituteContact information of distributorChristopher Semsarian; c.semsarian@centenary.org.auType of cell lineiPSCOriginHumanAdditional origin infoAge: 58Sex: maleEthnicity: North-west EuropeanCell sourcePeripheral blood mononuclear cellsClonalityClonalMethod of reprogrammingTransgene free (episomal vectors)Genetic modificationNAType of modificationNAAssociated diseaseHypertrophic CardiomyopathyGene/locusMYBPC3 c.1504C > T p.Arg502Trp, Chr11: 47364249 (on Assembly GRCh37)Method of modificationNAName of transgene or resistanceNAInducible/constitutive systemNADate archived/stock date2017Cell line repository/bankNAEthical approvalPatient informed consent obtained, and ethics review board-competent authority approval obtained through the Ethics Review Committee, Sydney Local Health District.Protocol No X13-0069 and HREC/13/RPAH/93…”
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