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Cellosaurus GM11852 (CVCL_T823)

[Text version]
Cell line name GM11852
Accession CVCL_T823
Resource Identification Initiative To cite this cell line use: GM11852 (RRID:CVCL_T823)
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:4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Homozygous (Coriell=GM11852).
Disease Tay-Sachs disease (NCIt: C85184)
Tay-Sachs disease (ORDO: Orphanet_845)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_T824 ! GM11853
Sex of cell Male
Age at sampling 1Y
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 H. 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; GM11852
Cell line databases/resources CLO; CLO_0020028
Encyclopedic resources Wikidata; Q54845296
Entry history
Entry creation03-Feb-2014
Last entry update19-Dec-2024
Version number18