NG08555
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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28
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Relation to Proband
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VI-07
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY/46,XY,t(1;19)(1qter>1p34.1:: 19p13.3>19pter;19qter>19p13.3::1p34.1> 1pter)
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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 |
Passage Frozen |
3 |
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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 denied symptoms of intellectual impairment. Collateral history from his wife revealed that he has had difficulty with recent memory, loss of interest, emotional lability, and trouble handling money. Neurological exam was remarkable for disorientation for date and poor memory. CSF exam was normal. CT scan showed evidence of slight cortical atrophy. The skin biopsy was taken ante-mortem from the forearm. Culture was initiated on 11/06/85 using explants of minced skin. The cell morphology is fibroblast-like. The culture is a mosaic with karyotype: 46,XY/46,XY,t(1;19)(1qter>1p34.1::19p13.3>19pter;19qter>19p13.3::1p34.1> 1pter); balanced; 84%/14% with 2% showing other abnormalities. Culture was frozen at PDL 5. A lymphoblast culture from same donor is AG08554. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
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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