Description:
ALZHEIMER DISEASE; AD
NIA AGING CELL REPOSITORY DNA PANEL - CHARACTERIZED MUTATIONS
|
Repository
|
NIA Aging Cell Culture Repository
|
| Subcollection |
Alzheimer's Disease |
| Quantity |
10ug |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Family Member
|
11
|
|
Relation to Proband
|
sibling
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| 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. |
| |
| 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 is a probable escapee from Alzheimer's disease. Donor's parent and 4 siblings were affected. Donor is the product of a consanguineous marriage. The culture was initiated on 5/24/96 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. The karyotype is normal with 4% of the cells examined showing random chromosome loss. Donor's affected siblings are AG10956B, AG10984A, AG11001, and AG10987. A fibroblast culture from same donor is AG14244. The APOE genotype of the donor subject is E3/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 |
| |
| 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 |
| |
| Borgaonkar, Studies in a family with late on-set familial Alzheimers disease. Am J Hum Genet51:A337 (1992):625 1992 |
| PubMed ID: 8102761 |
|
|