NA00028
DNA from Fibroblast
Description:
MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA
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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 |
10 µg |
| 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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LEBANESE
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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 |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Remarks |
Lebanese; 46,XX; skeletal muscle hypermetabolism; abnormal mitochondria; genetic etiology unproven; 2nd reported case |
| Aggeler R, Coons J, Taylor SW, Ghosh SS, Garcia JJ, Capaldi RA, Marusich MF, A functionally active human F1F0 ATPase can be purified by immunocapture from
heart tissue and fibroblast cell lines. Subunit structure and activity studies. J Biol Chem277(37):33906-12 2002 |
| PubMed ID: 12110673 |
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