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Cellosaurus PFIZi024-A (CVCL_RG01)

[Text version]
Cell line name PFIZi024-A
Synonyms B218c6
Accession CVCL_RG01
Resource Identification Initiative To cite this cell line use: PFIZi024-A (RRID:CVCL_RG01)
Comments From: Pfizer, Inc.; New York; USA.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 4075; GABRA1; Simple; p.Arg147Gln (c.440G>A); ClinVar=VCV000807607; Zygosity=Heterozygous (hPSCreg).
Disease Developmental and epileptic encephalopathy 19 (NCIt: C142802)
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 30-34Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections EBiSC; PFIZi024-A
Cell line databases/resources hPSCreg; PFIZi024-A
Biological sample resources BioSamples; SAMEA104236754
Encyclopedic resources Wikidata; Q54947279
Entry history
Entry creation05-Mar-2018
Last entry update21-Mar-2023
Version number8