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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., Ivanyuk, D., Herms, S., Heilmann-Heimbach, S., O'Shea, O., Chapman, C., Izsvák, Z., Farr, M., 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 |
| ISSN: | 1873-5061 |
| Publisher: | Elsevier |
| Volume: | 16 |
| Number: | 2 |
| 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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