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Cellosaurus GM13205 (CVCL_AX25)

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Cell line name GM13205
Synonyms NPD-1
Accession CVCL_AX25
Resource Identification Initiative To cite this cell line use: GM13205 (RRID:CVCL_AX25)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
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.Phe333Serfs*52 (c.996delC) (P330fs, 990delC); ClinVar=VCV000002990; Zygosity=Heterozygous (Coriell=GM13205).
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_YE52 (GM27464)
Sex of cell Female
Age at sampling 2Y
Category Finite cell line
Publications

PubMed=19815695; DOI=10.2353/jmoldx.2009.090050; PMCID=PMC2765751
Lisa V. Kalman, Jean Amos Wilson, Arlene M. Buller-Burckle, John Dixon, Lisa J. Edelmann, Louis Geller, William Edward Highsmith Jr., Leonard M. Holtegaard, Ruth Kornreich, Elizabeth M. Rohlfs, Toby L. Payeur ...Show all 14 authors... , Tina Sellers, Lorraine Hellenga Toji, Kasinathan Muralidharan; Show fewer authors
Development of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi Jewish descent.
J. Mol. Diagn. 11:530-536(2009)

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; GM13205
Cell line databases/resources CLO; CLO_0013203
Anatomy/cell type resources BTO; BTO_0004931
Encyclopedic resources Wikidata; Q54846381
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number13