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Cellosaurus GM16193 (CVCL_DA45)

[Text version]
Cell line name GM16193
Accession CVCL_DA45
Resource Identification Initiative To cite this cell line use: GM16193 (RRID:CVCL_DA45)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Population: Jewish; Ashkenazi.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (Coriell=GM16193).
  • Mutation; HGNC; 11120; SMPD1; Simple; p.Arg498Leu (c.1493G>T) (R496L); ClinVar=VCV000002980; Zygosity=Heterozygous (Coriell=GM16193).
  • Mutation; HGNC; 11120; SMPD1; Simple; p.Arg610del (c.1826_1828GCC[1]) (c.1829_1831delGCC) (R608del); ClinVar=VCV000198093; Zygosity=Heterozygous (Coriell=GM16193).
Disease Niemann-Pick disease, type B (NCIt: C126866)
Niemann-Pick disease type B (ORDO: Orphanet_77293)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Transformed cell line
Publications

PubMed=19815695; DOI=10.2353/jmoldx.2009.090050
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)

Cross-references
Cell line collections (Providers) Coriell; GM16193
Cell line databases/resources CLO; CLO_0019358
Encyclopedic resources Wikidata; Q54848353
Entry history
Entry creation13-Jul-2016
Last entry update30-Jan-2024
Version number17