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Cellosaurus GM10949 (CVCL_0Q27)

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Cell line name GM10949
Accession CVCL_0Q27
Resource Identification Initiative To cite this cell line use: GM10949 (RRID:CVCL_0Q27)
Comments Population: Caucasian.
Derived from site: In situ; Fetus; UBERON=UBERON_0000323.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:3690; FGFR3; Simple; p.Arg248Cys (c.742C>T); ClinVar=VCV000016332; Zygosity=Heterozygous (Coriell=GM10949).
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 21FW
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; GM10949
Cell line databases/resources CLO; CLO_0023352
Biological sample resources BioSample; SAMN00800369
Encyclopedic resources Wikidata; Q54844757
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number16