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Cellosaurus GM01422 (CVCL_0P93)

[Text version]
Cell line name GM01422
Synonyms GM-1422
Accession CVCL_0P93
Resource Identification Initiative To cite this cell line use: GM01422 (RRID:CVCL_0P93)
Comments Population: African American.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:3690; FGFR3; Simple; p.Ser371Cys (c.1111A>T); ClinVar=VCV000016333; Zygosity=Heterozygous (Coriell=GM01422).
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 2W
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

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; GM01422
Cell line databases/resources CLO; CLO_0030780
Biological sample resources BioSample; SAMN00803878
Encyclopedic resources Wikidata; Q54836822
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number15