Generation of human induced pluripotent stem cell line from a patient with a long QT syndrome type 2

Azra Fatima; Dina Ivanyuk; Stefan Herms; Stefanie Heilmann-Heimbach; Orla O'Shea; Charlotte Chapman; Zsuszanna Izsvák; Martin Farr; Jürgen Hescheler; Tomo Šarić

doi:10.1016/j.scr.2015.12.039

Stem Cell Research (Mar 2016)

Generation of human induced pluripotent stem cell line from a patient with a long QT syndrome type 2

Azra Fatima,
Dina Ivanyuk,
Stefan Herms,
Stefanie Heilmann-Heimbach,
Orla O'Shea,
Charlotte Chapman,
Zsuszanna Izsvák,
Martin Farr,
Jürgen Hescheler,
Tomo Šarić

Affiliations

Azra Fatima: Center for Physiology and Pathophysiology, Institute for Neurophysiology, Medical Faculty, University of Cologne, Cologne, Germany
Dina Ivanyuk: Center for Physiology and Pathophysiology, Institute for Neurophysiology, Medical Faculty, University of Cologne, Cologne, Germany
Stefan Herms: Institute for Human Genetics, University of Bonn, Bonn, Germany and Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany
Stefanie Heilmann-Heimbach: Institute for Human Genetics, University of Bonn, Bonn, Germany and Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany
Orla O'Shea: UK Stem Cell Bank, Division of Advanced Therapies, National Institute for Biological Standards and Control, Hertfordshire, UK
Charlotte Chapman: UK Stem Cell Bank, Division of Advanced Therapies, National Institute for Biological Standards and Control, Hertfordshire, UK
Zsuszanna Izsvák: Max-Delbrück-Center for Molecular Medicine in the Helmholtz Society, Berlin, Germany
Martin Farr: Heart- and Diabetes Center NRW, Laboratory of the Clinic for Cardiology, University Hospital of the Ruhr-University Bochum, Bad Oeynhausen, Germany
Jürgen Hescheler: Center for Physiology and Pathophysiology, Institute for Neurophysiology, Medical Faculty, University of Cologne, Cologne, Germany
Tomo Šarić: Center for Physiology and Pathophysiology, Institute for Neurophysiology, Medical Faculty, University of Cologne, Cologne, Germany

DOI: https://doi.org/10.1016/j.scr.2015.12.039
Journal volume & issue: Vol. 16, no. 2
pp. 304 – 307

Abstract

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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).

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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