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Cellosaurus GM20017 (CVCL_8A71)

[Text version]
Cell line name GM20017
Synonyms FD-2
Accession CVCL_8A71
Resource Identification Initiative To cite this cell line use: GM20017 (RRID:CVCL_8A71)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:735; ASAH1; Simple; c.1098+1G>T (IVS13+1G>T) (p.Asn348_Lys366del); ClinVar=VCV000812507; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM20017).
Disease Farber lipogranulomatosis (NCIt: C84710)
Farber disease (ORDO: Orphanet_333)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 0-3Y
Category Finite cell line
Publications

PubMed=21335555; DOI=10.1074/jbc.M110.163378; PMCID=PMC3075676
Jenkins R.W., Clarke C.J., Canals D., Snider A.J., Gault C.R., Heffernan-Stroud L., Wu B.X., Simbari F., Roddy P., Kitatani K., Obeid L.M., Hannun Y.A.
Regulation of CC ligand 5/RANTES by acid sphingomyelinase and acid ceramidase.
J. Biol. Chem. 286:13292-13303(2011)

Cross-references
Cell line collections (Providers) Coriell; GM20017
Cell line databases/resources CLO; CLO_0028364
Anatomy/cell type resources BTO; BTO_0004640
Encyclopedic resources Wikidata; Q54850781
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number14