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Cellosaurus HIHDNEi004-A (CVCL_C1TD)

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Cell line name HIHDNEi004-A
Synonyms iPSC-STX1B-P8
Accession CVCL_C1TD
Resource Identification Initiative To cite this cell line use: HIHDNEi004-A (RRID:CVCL_C1TD)
Comments From: Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tubingen; Tubingen; Germany.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:18539; STX1B; Simple; p.Lys45delinsArgMetCysIleGlu (c.133_134insGGATGTGCATTG); ClinVar=VCV000162396; Zygosity=Heterozygous (PubMed=36652844).
  • Mutation; HGNC; HGNC:18539; STX1B; Simple; p.Leu46Met (c.135_136delinsGA) (c.135_136AC>GA); ClinVar=VCV002627888; Zygosity=Heterozygous (PubMed=36652844).
Disease Generalized epilepsy with febrile seizures plus, type 9 (NCIt: C192201)
Generalized epilepsy with febrile seizures-plus (ORDO: Orphanet_36387)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 36Y
Category Induced pluripotent stem cell
Publications

PubMed=36652844; DOI=10.1016/j.scr.2023.103028
Carolin Haag, Betul Uysal, Justus Marquetand, Heidi Loffler, Ulrike A. Mau-Holzmann, Holger Lerche, Niklas Schwarz;
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 Res. 67:103028-103028(2023)

Cross-references
Cell line databases/resources hPSCreg; HIHDNEi004-A
Encyclopedic resources Wikidata; Q114311621
Entry history
Entry creation22-Sep-2022
Last entry update27-Nov-2025
Version number6