Cellosaurus logo
expasy logo

Cellosaurus GM05260 (CVCL_0P51)

[Text version]
Cell line name GM05260
Accession CVCL_0P51
Resource Identification Initiative To cite this cell line use: GM05260 (RRID:CVCL_0P51)
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; 870; ATP7B; Simple; p.Glu1064Ala (c.3191A>C); ClinVar=VCV000370081; Zygosity=Heterozygous (from familial inference of GM05257; GM05258).
  • Mutation; HGNC; 870; ATP7B; Simple; p.His1069Gln (c.3207C>A); ClinVar=VCV000003848; Zygosity=Heterozygous (from familial inference of GM05257; GM05258).
Disease Hepatolenticular degeneration (NCIt: C84756)
Wilson disease (ORDO: Orphanet_905)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_0P50 ! GM05259
Sex of cell Female
Age at sampling 30Y
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; GM05260
Cell line databases/resources CLO; CLO_0024957
Encyclopedic resources Wikidata; Q54838951
Entry history
Entry creation10-Apr-2015
Last entry update02-May-2024
Version number15