ID   FINi003-A
AC   CVCL_C8SP
SY   FI.SPSM.SCN2A.E1211K.008
DR   hPSCreg; FINi003-A
DR   Wikidata; Q123031282
RX   PubMed=38479087;
CC   From: The Florey Institute of Neuroscience and Mental Health, University of Melbourne; Melbourne; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10588; SCN2A; Simple; p.Glu1211Lys (c.3631G>A); ClinVar=VCV000029886; Zygosity=Heterozygous (PubMed=38479087).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C172096; Developmental and epileptic encephalopathy 11
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 4
//
RX   PubMed=38479087; DOI=10.1016/j.scr.2024.103367;
RA   Ovchinnikov D.A., Jong S., Cuddy C., Dalby K., Devinsky O., Mullen S.,
RA   Maljevic S., Petrou S.;
RT   "An iPSC line (FINi003-A) from a male with late-onset developmental
RT   and epileptic encephalopathy caused by a heterozygous p.E1211K
RT   variant in the SCN2A gene encoding the voltage-gated sodium channel
RT   Na(v)1.2.";
RL   Stem Cell Res. 76:103367-103367(2024).
//