title: Peripheral blood derived induced pluripotent stem cells (iPSCs) from a female with familial hypertrophic cardiomyopathy.
abstract: Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) obtained from a 62-year-old female with familial hypertrophic cardiomyopathy (HCM). PBMCs were reprogrammed to a pluripotent state following transfection with non-integrative episomal vectors carrying reprogramming factors OCT4, SOX2, LIN28, KLF4 and L-MYC. iPSCs were shown to express pluripotency markers, possess trilineage differentiation potential, carry rare variants identified in DNA isolated directly from the patient's whole blood, have a normal karyotype and no longer carry episomal vectors for reprogramming. This line is a useful resource for identifying unknown genetic causes of HCM.
authors.affiliation: Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Newtown, Australia; Sydney Medical School, University of Sydney, Sydney, Australia. Electronic address: s.barratt@centenary.org.au.
authors.forename: Samantha Barratt
authors.initials: SB
authors.lastname: Ross
authors.affiliation: Disciplines of Physiology, Anatomy & Histology, School of Medical Sciences, University of Sydney, Sydney, Australia.
authors.forename: Stuart T
authors.initials: ST
authors.lastname: Fraser
authors.affiliation: Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Newtown, Australia; Sydney Medical School, University of Sydney, Sydney, Australia.
authors.forename: Richard D
authors.initials: RD
authors.lastname: Bagnall
authors.affiliation: Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Newtown, Australia; Sydney Medical School, University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.
authors.forename: Christopher
authors.initials: C
authors.lastname: Semsarian
mesh_terms: D001483:Base Sequence; D020746:Calcium Channels, L-Type / Q000235:genetics; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D002352:Carrier Proteins / Q000235:genetics; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D059785:Karyotype; D000090062:Kruppel-Like Factor 4; D007963:Leukocytes, Mononuclear / Q000166:cytology* / Q000378:metabolism; D008875:Middle Aged; D020125:Mutation, Missense; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: C472073:CACNA1D protein, human; D020746:Calcium Channels, L-Type; D002352:Carrier Proteins; C000715467:KLF4 protein, human; D000090062:Kruppel-Like Factor 4; D014157:Transcription Factors; C027208:ubiquinone-binding proteins