Cellosaurus logo
expasy logo

Cellosaurus PFIZi021-A (CVCL_RF99)

[Text version]
Cell line name PFIZi021-A
Synonyms OD001-S7
Accession CVCL_RF99
Resource Identification Initiative To cite this cell line use: PFIZi021-A (RRID:CVCL_RF99)
Comments From: Pfizer, Inc.; New York; USA.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 10585; SCN1A; Simple; p.Thr1721Lys (c.5162C>A); ClinVar=VCV000206859; Zygosity=Heterozygous; Note=De novo mutation (hPSCreg=PFIZi021-A).
Disease Developmental and epileptic encephalopathy 6A (NCIt: C147071)
Dravet syndrome (ORDO: Orphanet_33069)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10-14Y
Category Induced pluripotent stem cell
Cell line collections (Providers) EBiSC; PFIZi021-A
Cell line databases/resources hPSCreg; PFIZi021-A
Biological sample resources BioSamples; SAMEA4563388
Encyclopedic resources Wikidata; Q54947276
Entry history
Entry creation05-Mar-2018
Last entry update29-Jun-2023
Version number12