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Cellosaurus GM00712 (CVCL_0P83)

[Text version]
Cell line name GM00712
Synonyms GM-712; AG00712; AG-712; AG 712; AG0712
Accession CVCL_0P83
Resource Identification Initiative To cite this cell line use: GM00712 (RRID:CVCL_0P83)
Comments Derived from site: In situ; Spleen; UBERON=UBERON_0002106.
Cell type: Fibroblast of spleen; CL=CL_2000051.
Sequence variations
  • Mutation; HGNC; 3690; FGFR3; Simple; p.Arg248Cys (c.742C>T); ClinVar=VCV000016332; Zygosity=Heterozygous (Coriell=GM00712).
Disease Thanatophoric dysplasia (NCIt: C85187)
Thanatophoric dysplasia (ORDO: Orphanet_2655)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_0P82 ! GM00711
CVCL_0P84 ! GM00713
CVCL_0P85 ! GM00714
Sex of cell Male
Age at sampling 1D
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)

CLPUB00387
Coriell L.L., Greene A.E., Mulivor R.A.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980.
(In) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980)

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)

Cross-references
Cell line collections (Providers) Coriell; AG00712 - Discontinued
Coriell; GM00712
Cell line databases/resources CLO; CLO_0028890
Encyclopedic resources Wikidata; Q54836404
Entry history
Entry creation10-Apr-2015
Last entry update30-Jan-2024
Version number16