Generation of an induced pluripotent stem cell (iPSC) line from a patient with GEFS+ carrying a STX1B (p.Lys45delinsArgMetCysIleGlu and p.Leu46Met) mutation


The STX1B gene encodes the presynaptic protein syntaxin-1B, which plays a major role in regulating fusion of synaptic vesicles. Mutations in STX1B are known to cause epilepsy syndromes, such as genetic epilepsies with febrile seizures plus (GEFS+). Here, we reprogrammed skin fibroblasts from a female patient affected by GEFS+ to human induced pluripotent stem cells (iPSCs). The patient carries an InDel mutation (c.133_134insGGATGTGCATTG; p.Lys45delinsArgMetCysIleGlu and c.135_136AC > GA; p.Leu46Met), located in the regulatory Habc-domain of STX1B. Successful reprogramming of cells was confirmed by a normal karyotype, expression of several pluripotency markers and the potential to differentiate into all three germ layers. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Haag C, Uysal B, Marquetand J, Löffler H, Mau-Holzmann UA, Lerche H, Schwarz N
Journal Stem cell research
Publication Date 2023 Mar;67:103028
PubMed 36652844
DOI 10.1016/j.scr.2023.103028

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