NG08597
DNA from Fibroblast
Description:
ALZHEIMER DISEASE; AD
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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 |
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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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5
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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 |
11 |
| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Remarks |
The donor has a history of insidious onset memory impairment which began at age 41. He now requires complete custodial care. Neurological exam revealed disorientation and severely compromised intellectual function attended by regressive reflexes. His EEG was characterized by irregular slowing. CT scan revealed cortical atrophy. The skin biopsy was taken antemortem from the forearm. Culture was initiated on 12/10/85 using explants of minced skin. The cell morphology is fibroblast-like. The culture is a mosaic with karyotype: 46,XY/46,XY,6q+/46,XY,t(1;6)(1qter>1p34.1::6q23> 6qter;6pter>6q23::1p34.1>1pter); balanced; 84%/8%/6%. Culture was frozen at PDL 5. A lymphoblast culture from same donor is AG08596. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Mendonsa G, Dobrowolska J, Lin A, Vijairania P, Jong YJ, Baenziger NL, Molecular profiling reveals diversity of stress signal transduction cascades in highly penetrant Alzheimer's disease human skin fibroblasts PLoS ONE4:e4655 2008 |
| PubMed ID: 19247475 |
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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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