| Cell line name |
GM01720 |
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| Synonyms |
GM-1720; GM1720 |
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| Accession |
CVCL_9R65 |
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| Resource Identification Initiative |
To cite this cell line use: GM01720 (RRID:CVCL_9R65) |
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| Comments |
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; 7758; NEU1; Simple; p.Phe260Tyr (c.779T>A); ClinVar=VCV000002446; Zygosity=Heterozygous (PubMed=9054950).
|
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Male |
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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
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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977) 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) PubMed=9054950; DOI=10.1038/ng0397-316
Pshezhetsky A.V., Richard C., Michaud L., Igdoura S., Wang S.-P., Elsliger M.-A., Qu J.-Y., Leclerc D., Gravel R.A., Dallaire L., Potier M.
Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis.
Nat. Genet. 15:316-320(1997) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM01720
|
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| Cell line databases/resources |
CLO; CLO_0030986
|
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| Biological sample resources |
BioSample; SAMN00807109
|
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| Encyclopedic resources |
Wikidata; Q54837034
|
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| Entry history |
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| Entry creation | 23-Feb-2016 |
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| Last entry update | 29-Jun-2023 |
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| Version number | 11 |
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