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Cellosaurus GM23378 (CVCL_BV59)

[Text version]
Cell line name GM23378
Accession CVCL_BV59
Resource Identification Initiative To cite this cell line use: GM23378 (RRID:CVCL_BV59)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Population: Caucasian; French/Irish.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[~80-90] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (Coriell=GM23378).
Disease Dystrophia myotonica 1 (NCIt: C84679)
Steinert myotonic dystrophy (ORDO: Orphanet_273)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 65Y
Category Transformed cell line
Publications

PubMed=23680132; DOI=10.1016/j.jmoldx.2013.03.008; PMCID=PMC3699699
Kalman L.V., Tarleton J.C., Hitch M., Hegde M., Hjelm N.L., Berry-Kravis E.M., Zhou L.-L., Hilbert J.E., Luebbe E.A., Moxley R.T. 3rd, Toji L.H.
Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.
J. Mol. Diagn. 15:518-525(2013)

Cross-references
Cell line collections (Providers) Coriell; GM23378
Encyclopedic resources Wikidata; Q54853033
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number11