NG20445
DNA from Fibroblast
Description:
PARKINSON DISEASE
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
10 µg |
| 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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Race
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White
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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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| PDL at Freeze |
6.21 |
| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Remarks |
Clinically affected; gradual onset of difficulty of use of the left lower extremities beginning at age 44 yr and progressing to the left upper extremities; mild intermittent tremor of the hands; marked paucity of facial expression; generalized bradykinesia; lack of blinking; low pitched monotone-type voice; akinesia; cogwheeling particularly in the left upper extremity; deterioration of movement; marked decrease in rapid alternating motion rate of the upper and lower extremities on the left with typical decomposition of movements; walking with left leg drag and reduced left arm swing; blurred vision in left eye corrected with glasses; hearing loss with bilateral non-pulsitile tinnitus; neck rigidity; deep tendon reflexes active bilaterally in upper and lower extremities; Babinski and Hoffman signs are absent; hypertonia with significant rigidity; stage III parkinson's disease at age 54 years with impaired postural stability, stooped posture, and mild intermittent tremor of both upper extremities; headaches since sustaining a head trauma at age 24; normal CAT scan at age 57 years; treated and improved with Sinemet and Artane; negative family history. |
| Thomas R, Moloney EB, Macbain ZK, Hallett PJ, Isacson O, Fibroblasts from idiopathic Parkinson's disease exhibit deficiency of lysosomal glucocerebrosidase activity associated with reduced levels of the trafficking receptor LIMP2 Molecular brain14:16 2020 |
| PubMed ID: 33468204 |
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