ID   GM04569
AC   CVCL_8520
DR   CLO; CLO_0018878
DR   Coriell; GM04569
DR   Wikidata; Q54838571
RX   PubMed=18691744;
RX   PubMed=21354051;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; None_reported; -; Zygosity=- (PubMed=21354051).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84587; Becker's muscular dystrophy
DI   ORDO; Orphanet_98895; Becker muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   38Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 17
//
RX   PubMed=18691744; DOI=10.1016/j.cell.2008.07.041;
RA   Park I.-H., Arora N., Huo H.-G., Maherali N., Ahfeldt T., Shimamura A.,
RA   Lensch M.W., Cowan C.A., Hochedlinger K., Daley G.Q.;
RT   "Disease-specific induced pluripotent stem cells.";
RL   Cell 134:877-886(2008).
//
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).
//