NG20442
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 |
5.11 |
| Passage Frozen |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Remarks |
Clinically affected; onset at age 51 with stiff neck which began to involve his right side; mild intermittent resting tremor; rigidity on right side with relatively good movement on left side of body; cog-wheel rigidity; akinesia; seborrhea; akathisia; deep tendon reflexes are hypoactive, but symmetric; bilateral flexor plantar responses; treated and improved with Sinemet; when not taking medication, he has more rightside stiffness and akathisia; negative family history; see AG20441 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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| Murti H, Pieknell K, Bachtiar I, Sari SY, Sulistio YA, Lee SH, Establishment human induced pluripotent stem cell line from idiopathic non-familial Parkinson's disease patient using self-replicating RNA vector Stem cell research50:102137 2020 |
| PubMed ID: 33418202 |
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