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Cellosaurus GM05258 (CVCL_0P49)

[Text version]
Cell line name GM05258
Synonyms GM05258A
Accession CVCL_0P49
Resource Identification Initiative To cite this cell line use: GM05258 (RRID:CVCL_0P49)
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 (Coriell=GM05258).
  • Mutation; HGNC; 870; ATP7B; Simple; p.His1069Gln (c.3207C>A); ClinVar=VCV000003848; Zygosity=Heterozygous (Coriell=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_0P48 ! GM05257
Sex of cell Female
Age at sampling 34Y
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

Cross-references
Cell line collections (Providers) Coriell; GM05258
Cell line databases/resources CLO; CLO_0025232
Encyclopedic resources Wikidata; Q54838946
Entry history
Entry creation10-Apr-2015
Last entry update30-Jan-2024
Version number16