NA02295
DNA from Fibroblast
Description:
WINCHESTER SYNDROME; WNCHRS
MATRIX METALLOPROTEINASE 14; MMP14
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Gene |
MMP14 |
| Chromosomal Location |
14q11.2 |
| Allelic Variant 1 |
600754.0001; WINCHESTER SYNDROME; WNCHRS |
| Identified Mutation |
c.50C>G (p.Thr17Arg) |
| |
| Gene |
MMP14 |
| Chromosomal Location |
14q11.2 |
| Allelic Variant 2 |
600754.0001; WINCHESTER SYNDROME; WNCHRS |
| Identified Mutation |
c.50C>G (p.Thr17Arg) |
| Remarks |
Puerto Rican; rheumatoid arthritis; coarse facies; corneal opacity; increased intracellular uronic acid level in fibroblasts; similarly affected sib |
| Evans BR, Mosig RA, Lobl M, Martignetti CR, Camacho C, Grum-Tokars V, Glucksman MJ, Martignetti JA, Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome American journal of human genetics91:572-6 2012 |
| PubMed ID: 22922033 |
| |
| Winchester P, Grossman H, Lim WN, Danes BS, A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis. Am J Roentgenol Radium Ther Nucl Med106:121-8 1969 |
| PubMed ID: 4238825 |
|