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Cellosaurus GM22112 (CVCL_BU04)

[Text version]
Cell line name GM22112
Accession CVCL_BU04
Resource Identification Initiative To cite this cell line use: GM22112 (RRID:CVCL_BU04)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8654; PCCB; Simple; p.Gly407Argfs*14 (c.1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA) (c.1218_1231del14ins12); ClinVar=VCV000038875; Zygosity=Homozygous (Coriell=GM22112).
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 12Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM22112
Encyclopedic resources Wikidata; Q54852347
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number13