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Cellosaurus PFIZi022-A (CVCL_RG00)

[Text version]
Cell line name PFIZi022-A
Synonyms B219c2
Accession CVCL_RG00
Resource Identification Initiative To cite this cell line use: PFIZi022-A (RRID:CVCL_RG00)
Comments From: Pfizer, Inc.; New York; USA.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 30881; ALG13; Simple; p.Asn107Ser (c.320A>G) (N29S); ClinVar=VCV000066086; Zygosity=Heterozygous (hPSCreg=PFIZi022-A).
Disease Developmental and epileptic encephalopathy 36 (NCIt: C142803)
Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 10-14Y
Category Induced pluripotent stem cell
Cell line collections (Providers) EBiSC; PFIZi022-A
ECACC; 66540607 - Discontinued
Cell line databases/resources hPSCreg; PFIZi022-A
Biological sample resources BioSamples; SAMEA104236750
Encyclopedic resources Wikidata; Q54947277
Entry history
Entry creation05-Mar-2018
Last entry update30-Jan-2024
Version number12