| Cell line name |
GM01983 |
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| Synonyms |
GM-1983 |
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| Accession |
CVCL_F591 |
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| Resource Identification Initiative |
To cite this cell line use: GM01983 (RRID:CVCL_F591) |
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| Comments |
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620. |
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| 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).
|
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Originate from same individual |
CVCL_F592 ! GM01984 |
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| Sex of cell |
Female |
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| Age at sampling |
26Y |
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| Category |
Finite cell line |
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| Publications | DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
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
Nicholas G. Beratis, Mazie Yee, Gundula U. LaBadie, Kurt Hirschhorn;
Effect of copper on Menkes' and normal cultured skin fibroblasts.
Dev. Pharmacol. Ther. 1:305-317(1980) CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM01983
|
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| Cell line databases/resources |
CLO; CLO_0032358
|
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| Biological sample resources |
BioSample; SAMN00807350
|
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| Encyclopedic resources |
Wikidata; Q54837214
|
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| Entry history |
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| Entry creation | 11-Feb-2013 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 13 |
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