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Cellosaurus GM02315 (CVCL_8A65)

[Text version]
Cell line name GM02315
Synonyms GM-2315; FD-1
Accession CVCL_8A65
Resource Identification Initiative To cite this cell line use: GM02315 (RRID:CVCL_8A65)
Comments Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:735; ASAH1; Simple; p.Glu138Val (c.413A>T) (p.Glu154Val, c.461A>T); ClinVar=VCV000000092; Zygosity=Homozygous (PubMed=11241842).
Disease Farber lipogranulomatosis (NCIt: C84710)
Farber disease (ORDO: Orphanet_333)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 7Y
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)

PubMed=11241842; DOI=10.1002/humu.5
Julia Krystyna Bar, Thomas Linke, Klaus Ferlinz, Ulrich Neumann, Edward H. Schuchman, Konrad Sandhoff;
Molecular analysis of acid ceramidase deficiency in patients with Farber disease.
Hum. Mutat. 17:199-209(2001)

PubMed=21335555; DOI=10.1074/jbc.M110.163378; PMCID=PMC3075676
Russell William Jenkins, Christopher J. Clarke, Daniel Canals, Ashley J. Snider, Christopher R. Gault, Linda Heffernan-Stroud, Bill X. Wu, Fabio Simbari, Patrick Roddy, Kazuyuki Kitatani, Lina Marie Obeid, Yusuf A. Hannun;
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; GM02315
Cell line databases/resources CLO; CLO_0032178
Anatomy/cell type resources BTO; BTO_0004460
Biological sample resources BioSample; SAMN00807687
Encyclopedic resources Wikidata; Q54837423
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number14