| Cell line name |
GM01981 |
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| Synonyms |
GM-1981; GM1981 |
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| Accession |
CVCL_F589 |
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| Resource Identification Initiative |
To cite this cell line use: GM01981 (RRID:CVCL_F589) |
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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; 869; ATP7A; Simple; p.Ile220Serfs*9 (c.659_663delTCTCA) (803_807delATCTC) (p.Leu219fs); Zygosity=Hemizygous (PubMed=7977350).
|
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| Disease |
Menkes disease (NCIt: C75486)
Menkes disease (ORDO: Orphanet_565) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Originate from same individual |
CVCL_F590 ! GM01982 |
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| Sex of cell |
Male |
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| Age at sampling |
2Y |
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| Category |
Finite cell line |
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| 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) PubMed=7977350; PMCID=PMC1918324
Das S., Levinson B., Whitney S., Vulpe C.D., Packman S., Gitschier J.
Diverse mutations in patients with Menkes disease often lead to exon skipping.
Am. J. Hum. Genet. 55:883-889(1994) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM01981
|
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| Cell line databases/resources |
CLO; CLO_0032339
|
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| Biological sample resources |
BioSample; SAMN00807346
|
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| Encyclopedic resources |
Wikidata; Q54837212
|
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| Entry history |
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| Entry creation | 11-Feb-2013 |
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| Last entry update | 29-Jun-2023 |
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| Version number | 15 |
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