ID   GM03697
AC   CVCL_X122
SY   GM03697A
DR   CLO; CLO_0015485
DR   BioSample; SAMN00808500
DR   Coriell; GM03697
DR   Wikidata; Q54838195
RX   CelloPub=CLPUB00447;
RX   PubMed=23680132;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[~500] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (Coriell=GM03697).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84679; Dystrophia myotonica 1
DI   ORDO; Orphanet_273; Steinert myotonic dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   17Y
CA   Transformed cell line
DT   Created: 17-07-14; Last updated: 19-12-24; Version: 16
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=23680132; DOI=10.1016/j.jmoldx.2013.03.008; PMCID=PMC3699699;
RA   Kalman L.V., Tarleton J.C., Hitch M., Hegde M., Hjelm N.L.,
RA   Berry-Kravis E.M., Zhou L.-L., Hilbert J.E., Luebbe E.A.,
RA   Moxley R.T. 3rd, Toji L.H.;
RT   "Development of a genomic DNA reference material panel for myotonic
RT   dystrophy type 1 (DM1) genetic testing.";
RL   J. Mol. Diagn. 15:518-525(2013).
//