ID   GM23127
AC   CVCL_U482
DR   Coriell; GM23127
DR   Wikidata; Q54852906
RX   PubMed=21354051;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Unexplicit; Ex27-28dup; Zygosity=Hemizygous (PubMed=21354051).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84587; Becker's muscular dystrophy
DI   ORDO; Orphanet_98895; Becker muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 12
//
RX   PubMed=21354051; DOI=10.1016/j.jmoldx.2010.11.018;
RA   Kalman L.V., Leonard J.C., Gerry N.P., Tarleton J.C., Bridges C.,
RA   Gastier-Foster J.M., Pyatt R.E., Stonerock E., Johnson M.A.,
RA   Richards C.S., Schrijver I., Ma T.-H., Miller V.R., Adadevoh Y.,
RA   Furlong P., Beiswanger C.M., Toji L.H.;
RT   "Quality assurance for Duchenne and Becker muscular dystrophy genetic
RT   testing: development of a genomic DNA reference material panel.";
RL   J. Mol. Diagn. 13:167-174(2011).
//