Description:
DYSTONIA MUSCULORUM DEFORMANS 2; DYT2
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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 |
|
Cell Type
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Fibroblast
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|
Transformant
|
Untransformed
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|
Race
|
White
|
|
Ethnicity
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JEWISH
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|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
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 |
Eastern European Jewish; onset at age 15 |
| György B, Cruz L, Yellen D, Aufiero M, Alland I, Zhang X, Ericsson M, Fraefel C, Li YC, Takeda S, Hyman BT, Breakefield XO, Mutant torsinA in the heterozygous DYT1 state compromises HSV propagation in infected neurons and fibroblasts Scientific reports8:2324 2017 |
| PubMed ID: 29396398 |
| |
| Sorbi S, Blass JP, Abnormal activation of pyruvate dehydrogenase in Leigh disease fibroblasts. Neurology32:555-8 1982 |
| PubMed ID: 7200213 |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| 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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