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Cellosaurus GM03756 (CVCL_X124)

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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; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[~500] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Unspecified (Coriell=GM03756).
  • Mutation; HGNC; 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
Richard A. Mulivor, Sharon F. Suchy;
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
Lisa V. Kalman, Jack C. Tarleton, Monica Hitch, Madhuri Hegde, Nick L. Hjelm, Elizabeth M. Berry-Kravis, Li-Li Zhou, James E. Hilbert, Elizabeth A. Luebbe, Richard T. Moxley 3rd, Lorraine H. Toji;
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 update19-Dec-2024
Version number19