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

Stem cell research - 1 Mar 2023

Haag Carolin, Uysal Betül, Marquetand Justus, Löffler Heidi, Mau-Holzmann Ulrike A, Lerche Holger, Schwarz Niklas

Abstract excerpt

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...

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Identifiers

PMID: 36652844
DOI: 10.1016/j.scr.2023.103028

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Generation of an induced pluripotent stem cell (iPSC) line from a patient with GEFS+ carrying a STX1B (p.Lys45delinsArgMetCysIleGlu and p.Leu46Met) mutation.PMID 36652844Read ↗

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