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Cellosaurus GM00286 (CVCL_L937)

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Cell line name GM00286
Synonyms GM-286; GM00058
Accession CVCL_L937
Resource Identification Initiative To cite this cell line use: GM00286 (RRID:CVCL_L937)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3579; FAH; Simple; p.Val166Gly (c.497T>G) (553T>G); ClinVar=VCV000558415; Zygosity=Heterozygous (Coriell=GM00286).
Disease Tyrosinemia type I (NCIt: C98641)
Tyrosinemia type 1 (ORDO: Orphanet_882)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_WV77 (HT patient 1 line 1)CVCL_WV78 (HT patient 1 line 2)CVCL_WV79 (HT patient 1 line 3)
Sex of cell Male
Age at sampling 2M
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; GM00058 - Discontinued
Coriell; GM00286
Cell line databases/resources CLO; CLO_0025525
Encyclopedic resources Wikidata; Q54836129
Entry history
Entry creation06-May-2013
Last entry update19-Dec-2024
Version number19