ID   GM04648
AC   CVCL_AW56
DR   CLO; CLO_0018967
DR   Coriell; GM04648
DR   Wikidata; Q54838619
RX   PubMed=23680132;
RX   PubMed=32656337;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2933; DMPK; Repeat_expansion; c.*224CTG[~1000] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (PubMed=32656337).
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)
OI   CVCL_AW55 ! GM04647
SX   Male
AG   23Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 29-06-23; 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).
//
RX   PubMed=32656337; DOI=10.1126/sciadv.aaz4012;
RA   Ruiz Buendia G.A., Leleu M., Marzetta F., Vanzan L., Tan J.Y.,
RA   Ythier V., Randall E.L., Marques A.C., Baubec T., Murr R.,
RA   Xenarios I., Dion V.;
RT   "Three-dimensional chromatin interactions remain stable upon CAG/CTG
RT   repeat expansion.";
RL   Sci. Adv. 6:eaaz4012.1-eaaz4012.12(2020).
//