ID   GM05127
AC   CVCL_5N20
DR   CLO; CLO_0025358
DR   Coriell; GM05127
DR   Wikidata; Q54838875
RX   PubMed=21354051;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Simple; p.Glu1845Ter (c.5533G>T); ClinVar=VCV000545963; Zygosity=Hemizygous (PubMed=21354051).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75482; Duchenne muscular dystrophy
DI   ORDO; Orphanet_98896; Duchenne muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   18Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 11
//
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).
//