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

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• 作者：Azra Fatima^a ; Dina Ivanyuk^a ; Stefan Herms^b ; ^c ; Stefanie Heilmann-Heimbach^b ; Orla O'Shea^d ; Charlotte Chapman^d ; Zsuszanna Izsvá ; k^e ; Martin Farr^f ; Jü ; rgen Hescheler^a ; Tomo &Scaron ; arić^a ; ^{tomo.saric@uni-koeln.de" class="auth_mail" title="E-mail the corresponding author}
• 刊名：Stem Cell Research
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：16
• 期：2
• 页码：304-307
• 全文大小：1216 K

文摘

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).