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Cellosaurus GM08855 (CVCL_0Q06)

[Text version]
Cell line name GM08855
Accession CVCL_0Q06
Resource Identification Initiative To cite this cell line use: GM08855 (RRID:CVCL_0Q06)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 3690; FGFR3; Simple; p.Arg248Cys (c.742C>T); ClinVar=VCV000016332; Zygosity=Heterozygous (Coriell=GM08855).
Disease Thanatophoric dysplasia (NCIt: C85187)
Thanatophoric dysplasia (ORDO: Orphanet_2655)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1D
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) 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; GM08855
Cell line databases/resources CLO; CLO_0010444
Biological sample resources BioSample; SAMN00798232
Encyclopedic resources Wikidata; Q54843338
Entry history
Entry creation10-Apr-2015
Last entry update30-Jan-2024
Version number15