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Cellosaurus PFIZi023-A (CVCL_VE75)

[Text version]
Cell line name PFIZi023-A
Synonyms B217c8
Accession CVCL_VE75
Resource Identification Initiative To cite this cell line use: PFIZi023-A (RRID:CVCL_VE75)
Comments From: Pfizer, Inc.; New York; USA.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4512; ADGRG1; Simple; p.Val316Leufs*8 (c.944_945dupTT); ClinVar=VCV000211096; Zygosity=Heterozygous (hPSCreg=PFIZi023-A).
  • Mutation; HGNC; HGNC:4512; ADGRG1; Simple; p.Leu503Pro (c.1508T>C) (p.Leu497Pro, c.1490T>C); ClinVar=VCV000158620; Zygosity=Heterozygous (hPSCreg=PFIZi023-A).
Disease Bilateral frontoparietal polymicrogyria (NCIt: C148367)
Bilateral frontoparietal polymicrogyria (ORDO: Orphanet_101070)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 5-9Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) EBiSC; PFIZi023-A
ECACC; 66540608 - Discontinued
Cell line databases/resources hPSCreg; PFIZi023-A
Biological sample resources BioSamples; SAMEA104236752
Encyclopedic resources Wikidata; Q54947278
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number11