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Cellosaurus GM09217 (CVCL_AA70)

[Text version]
Cell line name GM09217
Accession CVCL_AA70
Resource Identification Initiative To cite this cell line use: GM09217 (RRID:CVCL_AA70)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:12530; UGT1A1; Simple; p.Ser375Phe (c.1124C>T) (p.Ser374Phe, c.1121C>T) (S376F); ClinVar=VCV000012267; Zygosity=Homozygous (Coriell=GM09217).
Disease Crigler-Najjar syndrome (NCIt: C84656)
Crigler-Najjar syndrome (ORDO: Orphanet_205)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 7Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM09217
Cell line databases/resources CLO; CLO_0010684
Biological sample resources BioSample; SAMN00798589
Encyclopedic resources Wikidata; Q54843619
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number13