Cellosaurus cell line GM02315 (CVCL

Cellosaurus GM02315 (CVCL_8A65)

Cross-references
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)
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 creation	23-Feb-2016
Last entry update	19-Dec-2024
Version number	14