NA06206
DNA from Fibroblast
Description:
FELINE EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED
FELIS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Animals |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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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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Felis catus
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Common Name
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cat
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Remarks
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| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Skin fibroblast culture from a 6 yr old male domestic short-haired cat with a dominantly inherited syndrome of fragility & hyperextensibility of skin resembling Ehlers-Danlos syndrome with abnormal collagen packing in fibrils & fibers |
| Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML, Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet21(3):302-4 1999 |
| PubMed ID: 10080184 |
| |
| Patterson DF, Minor RR, Hereditary fragility and hyperextensibility of the skin of cats. A defect in collagen fibrillogenesis. Lab Invest37:170-9 1977 |
| PubMed ID: 881780 |
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