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Cellosaurus FINi001-A (CVCL_C8H7)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; FINi001-A
Biological sample resources BioSamples; SAMEA112835221
Encyclopedic resources Wikidata; Q123031279
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2