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Cellosaurus INSRMi004-A (CVCL_WR04)

[Text version]

Cell line name INSRMi004-A
Synonyms PC118_c7
Accession CVCL_WR04
Resource Identification Initiative To cite this cell line use: INSRMi004-A (RRID:CVCL_WR04)
Comments From: INSERM; France.
Population: Caucasian.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 10585; SCN1A; Simple; p.Arg865Ter (c.2593C>T); ClinVar=VCV000189844; Zygosity=Heterozygous (hPSCreg).
Disease Developmental and epileptic encephalopathy 6 (NCIt: C147071)
Dravet syndrome (ORDO: Orphanet_33069)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 15-19Y
Category Induced pluripotent stem cell
Cell line databases/resources hPSCreg; INSRMi004-A
Biological sample resources BioSamples; SAMEA5827958
Encyclopedic resources Wikidata; Q94318186
Entry history
Entry creation05-Jul-2019
Last entry update17-Mar-2022
Version number6