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Cellosaurus GM11317 (CVCL_U883)

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Cell line name GM11317
Accession CVCL_U883
Resource Identification Initiative To cite this cell line use: GM11317 (RRID:CVCL_U883)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:3690; FGFR3; Simple; p.Gly380Arg (c.1138G>A); ClinVar=VCV000016327; Zygosity=Homozygous (Coriell=GM11317).
Disease Achondroplasia (NCIt: C34345)
Achondroplasia (ORDO: Orphanet_15)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_U882 ! GM11316
Sex of cell Male
Age at sampling 1D
Category Finite cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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; GM11317
Cell line databases/resources CLO; CLO_0026055
Encyclopedic resources Wikidata; Q54845001
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number15