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Cellosaurus GM01983 (CVCL_F591)

[Text version]
Cell line name GM01983
Synonyms GM-1983
Accession CVCL_F591
Resource Identification Initiative To cite this cell line use: GM01983 (RRID:CVCL_F591)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:869; ATP7A; Simple; p.Ile220Serfs*9 (c.659_663delTCTCA) (803_807delATCTC) (p.Leu219fs); Zygosity=Hemizygous (from familial inference of GM01981; GM01982).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_F592 ! GM01984
Sex of cell Female
Age at sampling 26Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

PubMed=7438975; DOI=10.1159/000455548
Beratis N.G., Yee M., LaBadie G.U., Hirschhorn K.
Effect of copper on Menkes' and normal cultured skin fibroblasts.
Dev. Pharmacol. Ther. 1:305-317(1980)

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; GM01983
Cell line databases/resources CLO; CLO_0032358
Biological sample resources BioSample; SAMN00807350
Encyclopedic resources Wikidata; Q54837214
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number13