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Cellosaurus GM00989 (CVCL_CV39)

Cell line name GM00989
Synonyms GM-989; GM00989B; AG00989; AG-989; AG00989B; AG0989B
Accession CVCL_CV39
Secondary accession CVCL_W837
Resource Identification Initiative To cite this cell line use: GM00989 (RRID:CVCL_CV39)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6636; LMNA; Simple; p.Arg644Cys (c.1930C>T); ClinVar=VCV000014527; Zygosity=Heterozygous (Coriell=GM00989).
Disease Progeria (NCIt: C34951)
Hutchinson-Gilford progeria syndrome (ORDO: Orphanet_740)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 20Y
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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

CLPUB00597
National Institute on Aging
1994 catalog of cell lines. NIA Aging Cell Repository.
(In) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda (1994)

Cross-references
Cell line collections (Providers) Coriell; AG00989
Coriell; GM00989
Cell line databases/resources CLO; CLO_0029474
CLO; CLO_0036917
Encyclopedic resources Wikidata; Q54836584
Entry history
Entry creation13-Jul-2016
Last entry update30-Jan-2024
Version number14