Cellosaurus logo
expasy logo

Cellosaurus GM16193 (CVCL_DA45)

[Text][XML][JSON]
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; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (Coriell=GM16193).
  • Mutation; HGNC; HGNC:11120; SMPD1; Simple; p.Arg498Leu (c.1493G>T) (R496L); ClinVar=VCV000002980; Zygosity=Heterozygous (Coriell=GM16193).
  • Mutation; HGNC; 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; 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)

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 update19-Dec-2024
Version number18