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Cellosaurus GM08858 (CVCL_U880)

[Text version]
Cell line name GM08858
Accession CVCL_U880
Resource Identification Initiative To cite this cell line use: GM08858 (RRID:CVCL_U880)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3690; FGFR3; Simple; p.Gly380Arg (c.1138G>A); ClinVar=VCV000016327; Zygosity=Heterozygous (Coriell=GM08858).
Disease Achondroplasia (NCIt: C34345)
Achondroplasia (ORDO: Orphanet_15)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_RJ25 (ACH-8858-6)
Sex of cell Female
Age at sampling 30Y
Category Finite cell line
Publications

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)

Cross-references
Cell line collections (Providers) Coriell; GM08858
Cell line databases/resources CLO; CLO_0010443
Biological sample resources BioSample; SAMN00798238
Encyclopedic resources Wikidata; Q54843341
Entry history
Entry creation16-Apr-2014
Last entry update30-Jan-2024
Version number14