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Cellosaurus GM22366 (CVCL_BU46)

[Text version]
Cell line name GM22366
Accession CVCL_BU46
Resource Identification Initiative To cite this cell line use: GM22366 (RRID:CVCL_BU46)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8653; PCCA; Simple; p.Glu248Lys (c.742G>A) (E233K); ClinVar=VCV000418400; Zygosity=Heterozygous (Coriell=GM22366).
  • Mutation; HGNC; HGNC:8653; PCCA; Simple; p.Gly477Val (c.1430G>T) (G452V); ClinVar=VCV000550273; Zygosity=Heterozygous (Coriell=GM22366).
Disease Propionic acidemia (NCIt: C85030)
Propionic acidemia (ORDO: Orphanet_35)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 11M
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM22366
Encyclopedic resources Wikidata; Q54852543
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number13