NA03211
DNA from Fibroblast
Description:
DYSTONIA 1, TORSION; DYT1
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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 |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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ASHKENAZI
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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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| Remarks |
Generalized dystonia; Ashkenazi; onset at age 7 years; mother and sister are also affected |
| Cui H, Sepehrimanesh M, Coutee CA, Akter M, Hosain MA, Ding B, Protocol to image and quantify nucleocytoplasmic transport in cultured cells using fluorescent STAR protocols3:101813 2022 |
| PubMed ID: 36386872 |
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