Description:
ALZHEIMER DISEASE, FAMILIAL, TYPE 3
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Canadian Alzheimer Disease |
| Quantity |
10ug |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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22
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Relation to Proband
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VII-14
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX
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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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| 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 had a gradual progressive decline in concentration and memory for 2 years. Neuro exam revealed impairment of recent memory, speech perseveration, dyscalculia, reduced digit span, poor insight, motor apraxia, and a snout reflex. CSF exam and CT scan were normal. EEG revealed diffuse slowing with low voltage background activity. Culture was initiated on 05/24/84 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. The karyotype is 46,XX; normal diploid female. A skin fibroblast culture from same donor is AG07637A. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| 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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| Nee LE, Polinsky RJ, Eldridge R, Weingartner H, Smallberg S, Ebert M, A family with histologically confirmed Alzheimer's disease. Arch Neurol40:203-8 1983 |
| PubMed ID: 6600923 |
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