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Cellosaurus PFIZi029-A (CVCL_VE77)

[Text version]
Cell line name PFIZi029-A
Synonyms B222c4
Accession CVCL_VE77
Resource Identification Initiative To cite this cell line use: PFIZi029-A (RRID:CVCL_VE77)
Comments From: Pfizer, Inc.; New York; USA.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 1917; CHD2; Simple; p.Arg1546Ter (c.4636C>T); ClinVar=VCV000423473; Zygosity=Heterozygous (EBiSC=PFIZi029-A).
Disease Childhood-onset epileptic encephalopathy (NCIt: C172100)
Myoclonic-astastic epilepsy (ORDO: Orphanet_1942)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 5-9Y
Category Induced pluripotent stem cell
Cell line collections (Providers) EBiSC; PFIZi029-A
ECACC; 66540640 - Discontinued
Cell line databases/resources hPSCreg; PFIZi029-A
Biological sample resources BioSamples; SAMEA104491453
Encyclopedic resources Wikidata; Q54947283
Entry history
Entry creation14-May-2018
Last entry update30-Jan-2024
Version number9