@article{71f5f4fb209f4317bc91bced2b0991eb,
title = "Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations",
abstract = "Dravet syndrome (DS) is a childhood epilepsy syndrome caused by heterozygous mutations in the SCN1A gene encoding voltage-gated sodium channel Nav1.1. We generated iPSCs from fibroblasts of three DS patients carrying distinct SCN1A mutations (c.5502-5509dupGCTTGAAC, c.2965G>C and c.651C>G). The iPSC lines were genetically stable and each line retained the SCN1A gene mutation of the donor fibroblasts. Characterization of the iPSC lines confirmed expression of pluripotency markers, absence of exogenous vector expression and trilineage differentiation potential. These iPSC lines offer a useful resource to investigate the molecular mechanisms underlying Nav1.1 haploinsufficiency and for drug development to improve treatment of DS patients.",
author = "Jens Schuster and Ambrin Fatima and M. Sobol and Norradin, {Feria Hikmet} and L. Laan and Niklas Dahl",
note = "Funding Information: We thank the study participants and L. Lorenzo for technical support. This work was supported by the Swedish Research Council 2015-02424 (to ND), AstraZeneca, Hj{\"a}rnfonden FO2018-0100 (to ND) and the S{\"a}vstaholm Society (to LL). Image acquisition and flow cytometry were performed at the BioVis Platform and scorecard processing at the Genome Centre platform, Science for Life Laboratory at Uppsala University . Funding Information: We thank the study participants and L. Lorenzo for technical support. This work was supported by the Swedish Research Council 2015-02424 (to ND), AstraZeneca, Hj?rnfonden FO2018-0100 (to ND) and the S?vstaholm Society (to LL). Image acquisition and flow cytometry were performed at the BioVis Platform and scorecard processing at the Genome Centre platform, Science for Life Laboratory at Uppsala University. Publisher Copyright: {\textcopyright} 2019 The Authors",
year = "2019",
month = aug,
doi = "10.1016/j.scr.2019.101523",
language = "English",
volume = "39",
journal = "Stem Cell Research",
issn = "1873-5061",
publisher = "Elsevier",
}