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Cellosaurus PFIZi017-A (CVCL_RF96)

[Text version]

Cell line name PFIZi017-A
Synonyms BC142c7; RCi209
Accession CVCL_RF96
Resource Identification Initiative To cite this cell line use: PFIZi017-A (RRID:CVCL_RF96)
Comments From: Pfizer, Inc.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 10585; SCN1A; Simple; p.Cys1741Ser (c.5222G>C) (C1730S); ClinVar=VCV000577486; Zygosity=Heterozygous (EBiSC).
Disease Early infantile epileptic encephalopathy 6 (NCIt: C147071)
Dravet syndrome (ORDO: Orphanet_33069)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 25-29Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections EBiSC; PFIZi017-A
Cell line databases/resources hPSCreg; PFIZi017-A
Biological sample resources BioSamples; SAMEA4458848
Other Wikidata; Q54947272
Entry history
Entry creation05-Mar-2018
Last entry update20-May-2021
Version number6