| Cell line name |
GM00989 |
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| Synonyms |
GM-989; GM00989B; AG00989; AG-989; AG00989B; AG0989B |
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| Accession |
CVCL_CV39 |
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| Secondary accession |
CVCL_W837 |
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| Resource Identification Initiative |
To cite this cell line use: GM00989 (RRID:CVCL_CV39) |
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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; HGNC:6636; LMNA; Simple; p.Arg644Cys (c.1930C>T); ClinVar=VCV000014527; Zygosity=Heterozygous (Coriell=GM00989).
|
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| Disease |
Progeria (NCIt: C34951)
Hutchinson-Gilford progeria syndrome (ORDO: Orphanet_740) |
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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 |
20Y |
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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=7253718; DOI=10.1016/0047-6374(81)90027-0
Das N.K., Murphy D.G.
The National Institute on Aging repository cell cultures.
Mech. Ageing Dev. 16:1-17(1981) 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) CLPUB00597
National Institute on Aging
1994 catalog of cell lines. NIA Aging Cell Repository.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; AG00989
Coriell; GM00989
|
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| Cell line databases/resources |
CLO; CLO_0029474
CLO; CLO_0036917
|
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| Encyclopedic resources |
Wikidata; Q54836584
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| Entry history |
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| Entry creation | 13-Jul-2016 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 15 |
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