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Cellosaurus GM03756 (CVCL_X124)

[Text version]
Cell line name GM03756
Accession CVCL_X124
Resource Identification Initiative To cite this cell line use: GM03756 (RRID:CVCL_X124)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2933; DMPK; Repeat_expansion; c.*224CTG[~500] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Unspecified (Coriell=GM03756).
  • Mutation; HGNC; 7436; MTHFR; Simple; p.Ala222Val (c.665C>T) (C677T); ClinVar=VCV000003520; Zygosity=Heterozygous (Coriell=GM03756).
Disease Dystrophia myotonica 1 (NCIt: C84679)
Steinert myotonic dystrophy (ORDO: Orphanet_273)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_X123 ! GM03755
Sex of cell Male
Age at sampling 44Y
Category Transformed cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

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; GM03756
Cell line databases/resources CLO; CLO_0015517
Biological sample resources BioSample; SAMN00808519
Encyclopedic resources Wikidata; Q54838220
Entry history
Entry creation17-Jul-2014
Last entry update30-Jan-2024
Version number18