Cellosaurus logo
expasy logo

Cellosaurus GM03696 (CVCL_M944)

[Text][XML][JSON]
Cell line name GM03696
Synonyms GM03696B; GM03696C
Accession CVCL_M944
Resource Identification Initiative To cite this cell line use: GM03696 (RRID:CVCL_M944)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
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[~1000] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Unspecified (Coriell=GM03696).
Disease Dystrophia myotonica 1 (NCIt: C84679)
Steinert myotonic dystrophy (ORDO: Orphanet_273)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 13Y
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; GM03696
Cell line databases/resources CLO; CLO_0015480
Biological sample resources BioSample; SAMN00808499
Encyclopedic resources Wikidata; Q54838194
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number17