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

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Item Type:Article
Title:Generation of human induced pluripotent stem cell line from a patient with a long QT syndrome type 2
Creators Name:Fatima, A. and Ivanyuk, D. and Herms, S. and Heilmann-Heimbach, S. and O'Shea, O. and Chapman, C. and Izsvák, Z. and Farr, M. and Hescheler, J. and Šarić, T.
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).
Keywords:Base Sequence, Cell Differentiation, Cellular Reprogramming, Comparative Genomic Hybridization, Cultured Cells, ERG1 Potassium Channel, Fibroblasts, Flow Cytometry, Fluorescence Microscopy, Genotype, Heterozygote, Induced Pluripotent Stem Cells, Karyotype, Long QT Syndrome, Real-Time Polymerase Chain Reaction, Single Nucleotide Polymorphism, Skin, Transcription Factors
Source:Stem Cell Research
Page Range:304-307
Date:March 2016
Official Publication:https://doi.org/10.1016/j.scr.2015.12.039
PubMed:View item in PubMed

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