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Cellosaurus GM16195 (CVCL_AX26)

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Cell line name GM16195
Synonyms NPD-2
Accession CVCL_AX26
Resource Identification Initiative To cite this cell line use: GM16195 (RRID:CVCL_AX26)
Comments Population: Jewish; Ashkenazi.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11120; SMPD1; Simple; p.Leu304Pro (c.911T>C) (L302P); ClinVar=VCV000002989; Zygosity=Homozygous (Coriell=GM16195).
Disease Niemann-Pick disease, type A (NCIt: C126561)
Niemann-Pick disease type A (ORDO: Orphanet_77292)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_A8QQ (GM27463)
Sex of cell Male
Age at sampling Age unspecified
Category Finite cell line
Publications

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 Awni 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; GM16195
Cell line databases/resources CLO; CLO_0019366
Anatomy/cell type resources BTO; BTO_0005285
Encyclopedic resources Wikidata; Q54848354
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number14