ID   GM05115
AC   CVCL_5N11
SY   RB 5115
DR   CLO; CLO_0025376
DR   Coriell; GM05115
DR   Wikidata; Q54838865
RX   PubMed=6726265;
RX   PubMed=21354051;
RX   PubMed=23665875;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Unexplicit; Ex45del; Zygosity=Hemizygous (PubMed=21354051).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: CNV analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75482; Duchenne muscular dystrophy
DI   ORDO; Orphanet_98896; Duchenne muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_5N10 ! GM05114
SX   Male
AG   22Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 12
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RX   PubMed=6726265; DOI=10.1136/jnnp.47.4.391;
RA   Robbins J.H., Scudiero D.A., Otsuka F., Tarone R.E., Brumback R.A.,
RA   Wirtschafter J.D., Polinsky R.J., Barrett S.F., Moshell A.N.,
RA   Scarpinato R.G., Ganges M.B., Nee L.E., Meyer S.A., Clatterbuck B.E.;
RT   "Hypersensitivity to DNA-damaging agents in cultured cells from
RT   patients with Usher's syndrome and Duchenne muscular dystrophy.";
RL   J. Neurol. Neurosurg. Psych. 47:391-398(1984).
//
RX   PubMed=21354051; DOI=10.1016/j.jmoldx.2010.11.018;
RA   Kalman L.V., Leonard J., 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).
//
RX   PubMed=23665875; DOI=10.1534/g3.113.006577;
RA   Tang Z.-Y., Berlin D.S., Toji L.H., Toruner G.A., Beiswanger C.M.,
RA   Kulkarni S., Martin C.L., Emanuel B.S., Christman M., Gerry N.P.;
RT   "A dynamic database of microarray-characterized cell lines with
RT   various cytogenetic and genomic backgrounds.";
RL   G3 (Bethesda) 3:1143-1149(2013).
//