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Cellosaurus PFIZi031-A (CVCL_VE79)

[Text version]
Cell line name PFIZi031-A
Synonyms B213c1
Accession CVCL_VE79
Resource Identification Initiative To cite this cell line use: PFIZi031-A (RRID:CVCL_VE79)
Comments From: Pfizer, Inc.; New York; USA.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 10588; SCN2A; Simple; p.Lys1422Glu (c.4264A>G); ClinVar=VCV000206999; Zygosity=Heterozygous (EBiSC=PFIZi031-A).
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 5-9Y
Category Induced pluripotent stem cell
Cell line collections (Providers) EBiSC; PFIZi031-A
ECACC; 66540884 - Discontinued
Cell line databases/resources hPSCreg; PFIZi031-A
Biological sample resources BioSamples; SAMEA104494773
Encyclopedic resources Wikidata; Q54947297
Entry history
Entry creation14-May-2018
Last entry update30-Jan-2024
Version number10