ID   UNIMGi002-A
AC   CVCL_A1XI
SY   SCN1A_mut-2; SCN1Amut-2; SCN1A_Mild
DR   hPSCreg; UNIMGi002-A
DR   Wikidata; Q105511641
RX   PubMed=33370868;
CC   From: Universita degli Studi Magna Graecia di Catanzaro; Catanzaro; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10585; SCN1A; Simple; p.Met145Thr (c.434T>C); ClinVar=VCV000012896; Zygosity=Heterozygous (PubMed=33370868).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C176016; Febrile seizures, familial, 3A
DI   ORDO; Orphanet_36387; Generalized epilepsy with febrile seizures-plus
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   19Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=33370868; DOI=10.1016/j.scr.2020.102083;
RA   Scalise S., Scaramuzzino L., Lucchino V., Esposito C., Malatesta P.,
RA   Grillone K., Perrotti N., Cuda G., Parrotta E.I.;
RT   "Generation of iPSC lines from two patients affected by febrile
RT   seizure due to inherited missense mutation in SCN1A gene.";
RL   Stem Cell Res. 49:102083-102083(2020).
//