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Cellosaurus GM08857 (CVCL_U879)

[Text version]
Cell line name GM08857
Accession CVCL_U879
Resource Identification Initiative To cite this cell line use: GM08857 (RRID:CVCL_U879)
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=GM08857).
Disease Achondroplasia (NCIt: C34345)
Achondroplasia (ORDO: Orphanet_15)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_RJ24 (ACH-8857-1)
Sex of cell Male
Age at sampling 34Y
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; GM08857
Cell line databases/resources CLO; CLO_0010442
Biological sample resources BioSample; SAMN00798236
Encyclopedic resources Wikidata; Q54843340
Entry history
Entry creation16-Apr-2014
Last entry update30-Jan-2024
Version number14