• Mutation; HGNC; HGNC:2928; DMD; Simple; p.Gln1973Ter (c.5917C>T) (p.Gln1965Ter, c.5893C>T); ClinVar=VCV000217206; Zygosity=Hemizygous (PubMed=21354051).
  

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=21354051; DOI=10.1016/j.jmoldx.2010.11.018; PMCID=PMC3128550
Kalman L.V., Leonard J.C., Gerry N.P., Tarleton J.C., Bridges C., Gastier-Foster J.M., Pyatt R.E., Stonerock E., Johnson M.A., Richards C.S., Schrijver I., Ma T.-H., Miller V.R., Adadevoh Y., Furlong P., Beiswanger C.M., Toji L.H.
Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.
J. Mol. Diagn. 13:167-174(2011)

PubMed=23665875; DOI=10.1534/g3.113.006577; PMCID=PMC3704242
Tang Z.-Y., Berlin D.S., Toji L.H., Toruner G.A., Beiswanger C.M., Kulkarni S., Martin C.L., Emanuel B.S., Christman M., Gerry N.P.
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds.
G3 (Bethesda) 3:1143-1149(2013)