Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations

Jens Schuster, Ambrin Fatima, M. Sobol, Feria Hikmet Norradin, L. Laan, Niklas Dahl

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)

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.

Original languageEnglish
Article number101523
JournalStem Cell Research
Volume39
DOIs
Publication statusPublished - Aug 2019
Externally publishedYes

Fingerprint

Dive into the research topics of 'Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations'. Together they form a unique fingerprint.

Cite this