ID   GM23378
AC   CVCL_BV59
DR   Coriell; GM23378
DR   Wikidata; Q54853033
RX   PubMed=23680132;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Population: Caucasian; French/Irish.
CC   Sequence variation: Mutation; HGNC; 2933; DMPK; Repeat_expansion; c.*224CTG[~80-90] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (Coriell=GM23378).
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   65Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 30-01-24; Version: 10
//
RX   PubMed=23680132; DOI=10.1016/j.jmoldx.2013.03.008;
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. III, 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).
//