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Cellosaurus GM07092 (CVCL_L479)

[Text version]
Cell line name GM07092
Synonyms GM 7092; RJK 888; RJK888
Accession CVCL_L479
Resource Identification Initiative To cite this cell line use: GM07092 (RRID:CVCL_L479)
Comments Population: Caucasian; Irish/Italian.
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; c.609+5G>A (Ex8del); ClinVar=VCV000010054; Zygosity=Hemizygous (Coriell=GM07092).
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 2Y
Category Transformed cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM07092
Cell line databases/resources CLO; CLO_0036822
Encyclopedic resources Wikidata; Q54842530
Entry history
Entry creation06-May-2013
Last entry update19-Dec-2024
Version number18