ID   GM02295
AC   CVCL_4T29
SY   GM-2295
DR   CLO; CLO_0032204
DR   BioSample; SAMN00807665
DR   Coriell; GM02295
DR   Wikidata; Q54837411
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=22922033;
CC   Population: Puerto Rican.
CC   Sequence variation: Mutation; HGNC; 7160; MMP14; Simple; p.Thr17Arg (c.50C>G) (n.284C>G); ClinVar=VCV000065463; Zygosity=Homozygous (PubMed=22922033).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C170731; Winchester syndrome
DI   ORDO; Orphanet_371428; Multicentric osteolysis-nodulosis-arthropathy spectrum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   21Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 29-06-23; Version: 13
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=22922033; DOI=10.1016/j.ajhg.2012.07.022; PMCID=PMC3512002;
RA   Evans B.R., Mosig R.A., Lobl M., Martignetti C.R., Camacho C.,
RA   Grum-Tokars V., Glucksman M.J., Martignetti J.A.;
RT   "Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the
RT   multicentric osteolysis and arthritis disease Winchester syndrome.";
RL   Am. J. Hum. Genet. 91:572-576(2012).
//