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Cellosaurus GM22124 (CVCL_BU09)

[Text version]
Cell line name GM22124
Accession CVCL_BU09
Resource Identification Initiative To cite this cell line use: GM22124 (RRID:CVCL_BU09)
Comments Population: Southeast Asian; Filipino.
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.Arg113Ter (c.377C>T); ClinVar=VCV000265422; Zygosity=Heterozygous (from familial inference of GM22123).
  • Mutation; HGNC; HGNC:8654; PCCB; Simple; p.Phe391Ser (c.1172T>C); ClinVar=VCV001942487; Zygosity=Heterozygous (from familial inference of GM22123).
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 8Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM22124
Encyclopedic resources Wikidata; Q54852362
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number9