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

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

Format: Article
Diterbitkan: Elsevier 2016-03-01

Deskripsi

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).