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Cellosaurus GM13205 (CVCL_AX25)

[Text version]
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
Kalman L.V., Wilson J.A., Buller-Burckle A.M., Dixon J., Edelmann L.J., Geller L., Highsmith W.E. Jr., Holtegaard L.M., Kornreich R., Rohlfs E.M., Payeur T.L., Sellers T., Toji L.H., Muralidharan K.
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
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; 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