ID   HIHDNEi004-A
AC   CVCL_C1TD
SY   iPSC-STX1B-P8
DR   hPSCreg; HIHDNEi004-A
DR   Wikidata; Q114311621
RX   PubMed=36652844;
CC   From: Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tubingen; Tubingen; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 18539; STX1B; Simple; p.Lys45delinsArgMetCysIleGlu (c.133_134insGGATGTGCATTG); ClinVar=VCV000162396; Zygosity=Heterozygous (PubMed=36652844).
CC   Sequence variation: Mutation; HGNC; 18539; STX1B; Simple; p.Leu46Met (c.135_136delinsGA) (c.135_136AC>GA); Zygosity=Heterozygous (PubMed=36652844).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C192201; Generalized epilepsy with febrile seizures plus, type 9
DI   ORDO; Orphanet_36387; Generalized epilepsy with febrile seizures-plus
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   36Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=36652844; DOI=10.1016/j.scr.2023.103028;
RA   Haag C., Uysal B., Marquetand J., Loffler H., Mau-Holzmann U.A.,
RA   Lerche H., Schwarz N.;
RT   "Generation of an induced pluripotent stem cell (iPSC) line from a
RT   patient with GEFS+ carrying a STX1B (p.Lys45delinsArgMetCysIleGlu and
RT   p.Leu46Met) mutation.";
RL   Stem Cell Res. 67:103028-103028(2023).
//