Generation of an induced pluripotent stem cell line from a hypertrophic cardiomyopathy patient with a pathogenic myosin binding protein C (MYBPC3) p.Arg502Trp mutation

Publication date: Available online 6 October 2018Source: Stem Cell ResearchAuthor(s): Mira Holliday, Samantha Barratt Ross, Seakcheng Lim, Christopher SemsarianAbstractHypertrophic cardiomyopathy is an inherited cardiomyopathy with a prevalence of up to 1 in 200, which can result in significant morbidity and mortality. An iPSC line was generated from peripheral blood mononuclear cells obtained from the whole blood of a 58-year-old male with hypertrophic cardiomyopathy who carries the heterozygous pathogenic myosin binding protein C mutation p.Arg502Trp. Induced pluripotent stem cells express pluripotency markers, demonstrate trilineage differentiation potential, and display a normal karyotype. This line is a useful resource for studying and modeling hypertrophic cardiomyopathy.Resource tableUnique stem cell line identifierMCCI0003i-HCMAlternative name(s) of stem cell lineIK1InstitutionCentenary InstituteContact information of distributorChristopher Semsarian; Type 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/ba...
Source: Stem Cell Research - Category: Stem Cells Source Type: research