Description:
ALZHEIMER DISEASE, FAMILIAL, TYPE 3
PRESENILIN 1; PSEN1
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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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Ethnicity
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CANADIAN
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Family Member
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12
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Relation to Proband
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VII-42
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY
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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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| Gene |
PSEN1 |
| Chromosomal Location |
14q24.3 |
| Allelic Variant 1 |
104311.0003; ALZHEIMER DISEASE, FAMILIAL, TYPE 3 |
| Identified Mutation |
ALA246GLU; In a pedigree with chromosome 14-linked early-onset Alzheimer disease, Sherrington et al. [Nature 375: 754-760 (1995)] identified an ala246-to-glu mutation in the novel gene they isolated from the region of chromosome 14 identified by linkage studies as containing the AD3 gene. |
| Remarks |
The donor has a history of progressive memory loss beginning at age 55 preceded by 1-2 years of depression and social withdrawal. The donor exhibits global dementia with apraxia, emotional lability, and regressive reflexes. Gradual deterioration of intellectual functions has necessitated constant custodial care. The culture was initiated on 05/16/85 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. The karyotype is 46,XY with 4% of the cells examined showing random chromosome loss and 2% showing random chromosomal aberrations. A skin fibroblast culture from same donor is AG08170B. Cells carry missense mutation {Ala246Glu (A246E)} in the AD3 [presenilin 1 (PSEN1)] gene. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Martins RN, Turner BA, Carroll RT, Sweeney D, Kim KS, Wisniewski HM, Blass JP, Gibson GE, Gandy S, High levels of amyloid-beta protein from S182 (Glu246) familial Alzheimer's cells. Neuroreport7:217-20 1995 |
| PubMed ID: 8742455 |
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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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| 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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