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 |
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Cell Type
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Fibroblast
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|
Transformant
|
Untransformed
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|
Race
|
White
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|
Family Member
|
1
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Relation to Proband
|
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 |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
See GM02305 Lymphoid; onset at age 7; at time of biopsy very little speech and considerable dystonia of all extremities |
| 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 |
| Passage Frozen |
3 |
| 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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