Description:
ALZHEIMER DISEASE; AD
APOLIPOPROTEIN E; APOE
NIA AGING CELL REPOSITORY DNA PANEL - LATE 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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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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1
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Relation to Proband
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proband
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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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| 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 |
APOE |
| Chromosomal Location |
19q13.2 |
| Allelic Variant 1 |
107741.0016; APOE4 ISOFORM |
| Identified Mutation |
CYS112ARG; Weisgraber et al. [J. Biol. Chem. 256: 9077-9083 (1981)], Das et al. [J. Biol. Chem. 260: 6240-6247 (1985)] and Paik et al. [Proc. Nat. Acad. Sci. 82: 3445-3449 (1985)] identified the apolipoprotein E4 isoform in which there is a Cys112-to-Arg substitution. This variant is found in 6% to 37% of individuals from different populations. |
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| Gene |
APOE |
| Chromosomal Location |
19q13.2 |
| Allelic Variant 2 |
107741.0016; APOE4 ISOFORM |
| Identified Mutation |
CYS112ARG; Weisgraber et al. [J. Biol. Chem. 256: 9077-9083 (1981)], Das et al. [J. Biol. Chem. 260: 6240-6247 (1985)] and Paik et al. [Proc. Nat. Acad. Sci. 82: 3445-3449 (1985)] identified the apolipoprotein E4 isoform in which there is a Cys112-to-Arg substitution. This variant is found in 6% to 37% of individuals from different populations. |
| Remarks |
The donor had autopsy confirmed Alzheimer's disease with an onset of symptoms after age 70. Donor's parent and 3 siblings are also affected. The donor was the product of a consanguineous marriage. The culture was initiated on 11/02/90 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. The karyotype is normal with 14% of the cells examined showing random chromosome loss. Donor's affected siblings are AG10984A, AG11001, and AG10987. A fibroblast culture from same donor is AG10788. The APOE genotype of the donor subject is E4/E4. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Martin ES, Martin SE, Edelsohn L, Borgaonkar DS, Studies in a large family with late-onset Alzheimer disease (LOAD). Alzheimer Dis Assoc Disord11:163-70 1997 |
| PubMed ID: 9305502 |
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| Borgaonkar DS, Schmidt LC, Martin SE, Kanzer MD, Edelsohn L, Growdon J, Farrer LA, Linkage of late-onset Alzheimer's disease with apolipoprotein E type 4 on chromosome 19 [letter] Lancet342:625 1993 |
| PubMed ID: 8102761 |
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| Borgaonkar, Studies in a family with late on-set familial Alzheimers disease. Am J Hum Genet51:A337 (1992):625 1992 |
| PubMed ID: 8102761 |
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