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

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

Stem Cell Res. 2016 Mar;16(2):304-7. doi: 10.1016/j.scr.2015.12.039. Epub 2016 Jan 6.

Authors

Affiliations

¹ Center for Physiology and Pathophysiology, Institute for Neurophysiology, Medical Faculty, University of Cologne, Cologne, Germany.
² 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.
³ Institute for Human Genetics, University of Bonn, Bonn, Germany and Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany.
⁴ UK Stem Cell Bank, Division of Advanced Therapies, National Institute for Biological Standards and Control, Hertfordshire, UK.
⁵ Max-Delbrück-Center for Molecular Medicine in the Helmholtz Society, Berlin, Germany.
⁶ Heart- and Diabetes Center NRW, Laboratory of the Clinic for Cardiology, University Hospital of the Ruhr-University Bochum, Bad Oeynhausen, Germany.
⁷ Center for Physiology and Pathophysiology, Institute for Neurophysiology, Medical Faculty, University of Cologne, Cologne, Germany. Electronic address: tomo.saric@uni-koeln.de.

PMID: 27345990
DOI: 10.1016/j.scr.2015.12.039

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).

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Base Sequence
Cell Differentiation
Cells, Cultured
Cellular Reprogramming
Comparative Genomic Hybridization
ERG1 Potassium Channel / genetics
Female
Fibroblasts / cytology
Flow Cytometry
Genotype
Heterozygote
Humans
Induced Pluripotent Stem Cells / cytology*
Induced Pluripotent Stem Cells / metabolism
Karyotype
Long QT Syndrome / genetics
Long QT Syndrome / pathology*
Microscopy, Fluorescence
Polymorphism, Single Nucleotide
Real-Time Polymerase Chain Reaction
Skin / cytology
Transcription Factors / genetics
Transcription Factors / metabolism

Substances

ERG1 Potassium Channel
KCNH2 protein, human
Transcription Factors