Cellosaurus cell line FINi003-A (CVCL

Cross-references
Cell line name	FINi003-A
Synonyms	FI.SPSM.SCN2A.E1211K.008
Accession	CVCL_C8SP
Resource Identification Initiative	To cite this cell line use: FINi003-A (RRID:CVCL_C8SP)
Comments	From: The Florey Institute of Neuroscience and Mental Health, University of Melbourne; Melbourne; Australia. Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:10588; SCN2A; Simple; p.Glu1211Lys (c.3631G>A); ClinVar=VCV000029886; Zygosity=Heterozygous (PubMed=38479087).
Disease	Developmental and epileptic encephalopathy 11 (NCIt: C172096) Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	5Y
Category	Induced pluripotent stem cell
Publications	PubMed=38479087; DOI=10.1016/j.scr.2024.103367 Dmitry A. Ovchinnikov, Sharon Jong, Claire Cuddy, Kelly Dalby, Orrin Devinsky, Saul A. Mullen, Snezana Maljevic, Steven Petrou; An iPSC line (FINi003-A) from a male with late-onset developmental and epileptic encephalopathy caused by a heterozygous p.E1211K variant in the SCN2A gene encoding the voltage-gated sodium channel Na(v)1.2. Stem Cell Res. 76:103367-103367(2024)
Cell line databases/resources	hPSCreg; FINi003-A
Encyclopedic resources	Wikidata; Q123031282
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	4