Description:
WINCHESTER SYNDROME; WNCHRS
MATRIX METALLOPROTEINASE 14; MMP14
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| 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 |
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| 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 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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