Description:
ALZHEIMER DISEASE; AD
NIA AGING CELL REPOSITORY DNA PANEL - EARLY ONSET FAMILIAL ALZHEIMER DISEASE
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Alzheimer's 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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Sample Source
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DNA from LCL
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Race
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Asian
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Ethnicity
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JAPANESE
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Family Member
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4
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Relation to Proband
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brother
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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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| Gene |
APOE |
| Chromosomal Location |
19q13.2 |
| Allelic Variant 1 |
107741.0015; APOE3 ISOFORM |
| Identified Mutation |
CYS112 AND ARG158; Weisgraber et al. [J. Biol. Chem. 256: 9077-9083 (1981)] and Rall et al. [Proc. Nat. Acad. Sci. 79: 4696-4700 (1982)] identified one of the 3 major apolipoprotein E isoforms, apolipoprotein E3. The variant has Cys112 and Arg158. This is the most common variant, with frequencies of 40% to 90% in various populations. |
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| Gene |
APOE |
| Chromosomal Location |
19q13.2 |
| Allelic Variant 2 |
107741.0015; APOE3 ISOFORM |
| Identified Mutation |
CYS112 AND ARG158; Weisgraber et al. [J. Biol. Chem. 256: 9077-9083 (1981)] and Rall et al. [Proc. Nat. Acad. Sci. 79: 4696-4700 (1982)] identified one of the 3 major apolipoprotein E isoforms, apolipoprotein E3. The variant has Cys112 and Arg158. This is the most common variant, with frequencies of 40% to 90% in various populations. |
| Remarks |
The Japanese donor is a clinically affected member of a family with Alzheimer's disease. He has a history of progressive dementia. Lymphoblast cultures from 3 affected sibs are AG10643, AG10644A, and AG10645. The culture was initiated by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. The karyotype is 46,XY; normal diploid male with 2% of the cells examined showing random chromosome loss. The APOE genotype of the donor subject is E3/E3. |
| Lin YW, Thi DA, Kuo PL, Hsu CC, Huang BD, Yu YH, Vogt PH, Krause W, Ferlin A, Foresta C, Bienvenu T, Schempp W, Yen PH, Polymorphisms associated with the DAZ genes on the human Y chromosome Genomics86:431-8 2005 |
| PubMed ID: 16085382 |
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