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Cellosaurus FINi003-A (CVCL_C8SP)

[Text version]
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; 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
Ovchinnikov D.A., Jong S., Cuddy C., Dalby K., Devinsky O., Mullen S., Maljevic S., Petrou S.
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)

Cross-references
Cell line databases/resources hPSCreg; FINi003-A
Encyclopedic resources Wikidata; Q123031282
Entry history
Entry creation05-Oct-2023
Last entry update02-May-2024
Version number3