NG08523
DNA from Fibroblast
Description:
ALZHEIMER DISEASE; AD
Repository
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NIA Aging Cell Culture Repository
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Subcollection |
German Alzheimer Disease |
Quantity |
10 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
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Arm
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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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Ethnicity
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GERMAN
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Family Member
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39
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Relation to Proband
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VI-19
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY,t(5;17)(5pter>5q35::17q21>17qter; 17pter>17q21::5q35>5qter)
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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 |
Passage Frozen |
2 |
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase and Glucose-6-Phosphate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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Remarks |
The donor does not admit to any problems with memory. His family has noticed a progressive change in personality as he has also manifested increasing difficulty with recent memory. His neurological exam was remarkable only for poor recent memory. The patient has refused further neurological evaluation. The skin biopsy was taken ante-mortem from the forearm. Culture was initiated on 11/05/85 using explants of minced skin. The cell morphology is fibroblast-like. The karyotype is 46,XY,t(5;17) (5pter>5q35::17q21>17qter;17pter>17q21::5q35>5qter). Culture was frozen at PDL 4. A lymphoblast culture from same donor is AG08522A. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
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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Frommelt P, Schnabel R, Kuhne W, Nee LE, Polinsky RJ, Familial Alzheimer disease: a large, multigeneration German kindred. Alzheimer Dis Assoc Disord5:36-43 1991 |
PubMed ID: 2025423 |
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St George-Hyslop PH, Tanzi RE, Polinsky RJ, Haines JL, Nee L, Watkins PC, Myers RH, Feldman RG, Pollen D, Drachman D, et al, The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science235:885-90 1987 |
PubMed ID: 2880399 |
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