Cellosaurus cell line FINi001-A (CVCL

Cross-references
Cell line name	FINi001-A
Synonyms	FI.SPSM.SCN2A.R1882Q.009
Accession	CVCL_C8H7
Resource Identification Initiative	To cite this cell line use: FINi001-A (RRID:CVCL_C8H7)
Comments	From: The Florey Institute of Neuroscience and Mental Health, University of Melbourne; Melbourne; Australia. Population: Caucasian. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:10588; SCN2A; Simple; p.Arg1882Gln (c.5645G>A); ClinVar=VCV000196039; Zygosity=Heterozygous (PubMed=37597357).
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	Female
Age at sampling	2Y
Category	Induced pluripotent stem cell
Publications	PubMed=37597357; DOI=10.1016/j.scr.2023.103179 Ovchinnikov D.A., Jong S., Cuddy C., Scheffer I.E., Maljevic S., Petrou S. Generation of an iPSC line (FINi001-A) from a girl with developmental and epileptic encephalopathy due to a heterozygous gain-of-function p.R1882Q variant in the voltage-gated sodium channel Na(v)1.2 protein encoded by the SCN2A gene. Stem Cell Res. 71:103179-103179(2023)
Cell line databases/resources	hPSCreg; FINi001-A
Biological sample resources	BioSamples; SAMEA112835221
Encyclopedic resources	Wikidata; Q123031279
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3