title: Generation of human induced pluripotent stem cell line from a patient with a long QT syndrome type 2.
abstract: We report here the generation of human iPS cell line UKKi009-A from dermal fibroblasts of a patient carrying heterozygous mutation c.3035-3045delTCCCTCGATGC, p.Leu1012Pro (fs*55) in KCNH2 gene leading to long QT syndrome type 2 (LQT2). We used the Sleeping Beauty transposon-based plasmids expressing OSKM along with microRNAs 307/367 to reprogram the fibroblasts. The iPS cells possess pluripotent stem cell characteristics and differentiate to cell lineages of all three germ layers. This cell line can serve as a source for in vitro modeling of LQT2. This cell line is distributed by the European Collection of Authenticated Cell Cultures (ECACC).
authors.affiliation: Center for Physiology and Pathophysiology, Institute for Neurophysiology, Medical Faculty, University of Cologne, Cologne, Germany.
authors.forename: Azra
authors.initials: A
authors.lastname: Fatima
authors.affiliation: Center for Physiology and Pathophysiology, Institute for Neurophysiology, Medical Faculty, University of Cologne, Cologne, Germany.
authors.forename: Dina
authors.initials: D
authors.lastname: Ivanyuk
authors.affiliation: Institute for Human Genetics, University of Bonn, Bonn, Germany and Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany; Research group Genomics, Medical Genetics, University Hospital Basel, Department of Biomedicine, Basel, Switzerland.
authors.forename: Stefan
authors.initials: S
authors.lastname: Herms
authors.affiliation: Institute for Human Genetics, University of Bonn, Bonn, Germany and Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany.
authors.forename: Stefanie
authors.initials: S
authors.lastname: Heilmann-Heimbach
authors.affiliation: UK Stem Cell Bank, Division of Advanced Therapies, National Institute for Biological Standards and Control, Hertfordshire, UK.
authors.forename: Orla
authors.initials: O
authors.lastname: O'Shea
authors.affiliation: UK Stem Cell Bank, Division of Advanced Therapies, National Institute for Biological Standards and Control, Hertfordshire, UK.
authors.forename: Charlotte
authors.initials: C
authors.lastname: Chapman
authors.affiliation: Max-Delbrück-Center for Molecular Medicine in the Helmholtz Society, Berlin, Germany.
authors.forename: Zsuszanna
authors.initials: Z
authors.lastname: Izsvák
authors.affiliation: Heart- and Diabetes Center NRW, Laboratory of the Clinic for Cardiology, University Hospital of the Ruhr-University Bochum, Bad Oeynhausen, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Farr
authors.affiliation: Center for Physiology and Pathophysiology, Institute for Neurophysiology, Medical Faculty, University of Cologne, Cologne, Germany.
authors.forename: Jürgen
authors.initials: J
authors.lastname: Hescheler
authors.affiliation: Center for Physiology and Pathophysiology, Institute for Neurophysiology, Medical Faculty, University of Cologne, Cologne, Germany. Electronic address: tomo.saric@uni-koeln.de.
authors.forename: Tomo
authors.initials: T
authors.lastname: Šarić
mesh_terms: D000328:Adult; D001483:Base Sequence; D002454:Cell Differentiation; D002478:Cells, Cultured; D065150:Cellular Reprogramming; D055028:Comparative Genomic Hybridization; D000072237:ERG1 Potassium Channel / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000166:cytology; D005434:Flow Cytometry; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D059785:Karyotype; D008133:Long QT Syndrome / Q000235:genetics / Q000473:pathology*; D008856:Microscopy, Fluorescence; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D012867:Skin / Q000166:cytology; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D000072237:ERG1 Potassium Channel; C000606913:KCNH2 protein, human; D014157:Transcription Factors