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Cellosaurus GM05257 (CVCL_0P48)

[Text version]
Cell line name GM05257
Accession CVCL_0P48
Resource Identification Initiative To cite this cell line use: GM05257 (RRID:CVCL_0P48)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 870; ATP7B; Simple; p.Glu1064Ala (c.3191A>C); ClinVar=VCV000370081; Zygosity=Heterozygous (from autologous cell line GM05258).
  • Mutation; HGNC; 870; ATP7B; Simple; p.His1069Gln (c.3207C>A); ClinVar=VCV000003848; Zygosity=Heterozygous (from autologous cell line GM05258).
Disease Hepatolenticular degeneration (NCIt: C84756)
Wilson disease (ORDO: Orphanet_905)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_YB81 (AKOSi002-A)
Originate from same individual CVCL_0P49 ! GM05258
Sex of cell Female
Age at sampling 34Y
Category Finite 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; GM05257
Cell line databases/resources CLO; CLO_0025233
Encyclopedic resources Wikidata; Q54838945
Entry history
Entry creation10-Apr-2015
Last entry update29-Jun-2023
Version number15