NG20446
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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Family Member
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1
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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 |
4.39 |
| Passage Frozen |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Clinically affected; developed right-sided symptoms at age 50; resting tremor of right arm and leg; slight shuffling gait with right leg; left leg spasms; cogwheel phenomenon of right thumb, but not left; later developed cogwheel rigidity of right arm and leg, but not left; drift of left arm in pronation; plantar responses on right side; right hemi- Parkinsonian syndrome and apparent left hemiparesis; marked hypotonia; hyperactive auricularis oculi reflex; positive glabella reflex; reduced blink; reduced spontaneous movement; no facial expression; hyperactive reflexes, left more than right; treated and improved with Sinemet; culture grows slowly; see AG20447 Lymphoid |
| Mollinari C, De Dominicis C, Lupacchini L, Sansone L, Caprini D, Casciola CM, Wang Y, Zhao J, Fini M, Russo M, Garaci E, Merlo D, Detection of Pathological Markers of Neurodegenerative Diseases following Microfluidic Direct Conversion of Patient Fibroblasts into Neurons International journal of molecular sciences23: 2021 |
| PubMed ID: 35216271 |
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| Iannuzzi F, Frisardi V, Annunziato L, Matrone C, Might Fibroblasts from Patients with Alzheimer's Disease Reflect the Brain Pathology? A Focus on the Increased Phosphorylation of Amyloid Precursor Protein Tyr Brain sciences11: 2020 |
| PubMed ID: 33466666 |
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| Park IH, Arora N, Huo H, Maherali N, Ahfeldt T, Shimamura A, Lensch MW, Cowan C, Hochedlinger K, Daley GQ, Disease-Specific Induced Pluripotent Stem Cells Cell134(5):877-86 2008 |
| PubMed ID: 18691744 |
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