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Cellosaurus GM07290 (CVCL_0R03)

[Text version]
Cell line name GM07290
Accession CVCL_0R03
Resource Identification Initiative To cite this cell line use: GM07290 (RRID:CVCL_0R03)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 626; APRT; Simple; p.Leu110Pro (c.329T>C); ClinVar=VCV000018300; Zygosity=Homozygous (Coriell=GM07290).
Disease Adenine phosphoribosyltransferase deficiency (NCIt: C121564)
Adenine phosphoribosyltransferase deficiency (ORDO: Orphanet_976)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 26Y
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; GM07290
Cell line databases/resources CLO; CLO_0035944
Encyclopedic resources Wikidata; Q54842641
Entry history
Entry creation08-Jul-2015
Last entry update02-May-2024
Version number14