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Cellosaurus GM12012 (CVCL_L494)

[Text version]
Cell line name GM12012
Synonyms RJK 2397; RJK2397
Accession CVCL_L494
Resource Identification Initiative To cite this cell line use: GM12012 (RRID:CVCL_L494)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:5157; HPRT1; Simple; p.Gly40Glu (c.119G>A) (G39E); Zygosity=Hemizygous (Coriell=GM12012).
Disease Lesch-Nyhan syndrome (NCIt: C61255)
Lesch-Nyhan syndrome (ORDO: Orphanet_510)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM12012
Cell line databases/resources CLO; CLO_0020463
Encyclopedic resources Wikidata; Q54845446
Entry history
Entry creation06-May-2013
Last entry update19-Dec-2024
Version number15