• Mutation; HGNC; HGNC:7160; MMP14; Simple; p.Thr17Arg (c.50C>G) (n.284C>G); ClinVar=VCV000065463; Zygosity=Homozygous (PubMed=22922033).
  

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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=22922033; DOI=10.1016/j.ajhg.2012.07.022; PMCID=PMC3512002
Brad R. Evans, Rebecca A. Mosig, Mollie Emma Lobl, Chiara R. Martignetti, Catalina Camacho, Valerie Grum-Tokars, Marc Jay Glucksman, John A. Martignetti;
Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome.
Am. J. Hum. Genet. 91:572-576(2012)