ID   FINi001-A
AC   CVCL_C8H7
SY   FI.SPSM.SCN2A.R1882Q.009
DR   BioSamples; SAMEA112835221
DR   hPSCreg; FINi001-A
DR   Wikidata; Q123031279
RX   PubMed=37597357;
CC   From: The Florey Institute of Neuroscience and Mental Health, University of Melbourne; Melbourne; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10588; SCN2A; Simple; p.Arg1882Gln (c.5645G>A); ClinVar=VCV000196039; Zygosity=Heterozygous (PubMed=37597357).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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   Female
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37597357; DOI=10.1016/j.scr.2023.103179;
RA   Ovchinnikov D.A., Jong S., Cuddy C., Scheffer I.E., Maljevic S.,
RA   Petrou S.;
RT   "Generation of an iPSC line (FINi001-A) from a girl with developmental
RT   and epileptic encephalopathy due to a heterozygous gain-of-function
RT   p.R1882Q variant in the voltage-gated sodium channel Na(v)1.2 protein
RT   encoded by the SCN2A gene.";
RL   Stem Cell Res. 71:103179-103179(2023).
//