AG12729

AG12729 LCL from B-Lymphocyte

Description:

ALZHEIMER DISEASE; AD
APOLIPOPROTEIN E; APOE
NIA AGING CELL REPOSITORY DNA PANEL - EARLY ONSET FAMILIAL ALZHEIMER DISEASE

Affected:

Yes

Sex:

Male

Age:

52 YR (At Sampling)

Overview

Repository

NIA Aging Cell Culture Repository

Subcollection

Alzheimer's Disease

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

JEWISH

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

ISCN

46,XY

Species

Homo sapiens

Common Name

Human

Remarks

The donor exhibits progressive dementia. The donor is one of 23 affected individuals in a large Alzheimer's disease pedigree. 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. The APOE genotype of the donor subject is E2/E3. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Characterizations

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

Gene

APOE

Chromosomal Location

19q13.2

Allelic Variant 1

107741.0001; APOE2 ISOFORMS

Identified Mutation

ARG158CYS; The 3 major isoforms of human apolipoprotein E (apoE2, -E3, and -E4), as identified by isoelectric focusing, are coded for by 3 alleles (epsilon 2, 3, and 4). The E2 (107741.0001), E3 (107741.0015), and E4 (107741.0016) isoforms differ in amino acid sequence at 2 sites, residue 112 (called site A) and residue 158 (called site B). At sites A/B, apoE2, -E3, and -E4 contain cysteine/cysteine, cysteine/arginine, and arginine/arginine, respectively [Weisgraber et al. J. Biol. Chem. 256: 9077-9083 (1981) and Rall et al. Proc. Nat. Acad. Sci. 79: 4696-4700 (1982)].

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.

Phenotypic Data

Remarks

Publications

Schellenberg GD, Bird TD, Wijsman EM, Orr HT, Anderson L, Nemens E, White JA, Bonnycastle L, Weber JL, Alonso ME, et al, Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science258:668-71 1992

PubMed ID: 1411576

Schellenberg GD, Anderson L, O'dahl S, Wisjman EM, Sadovnick AD, Ball MJ, Larson EB, Kukull WA, Martin GM, Roses AD, et al, APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease [see comments] Am J Hum Genet49:511-7 1991

PubMed ID: 1679288

Schellenberg GD, Pericak-Vance MA, Wijsman EM, Moore DK, Gaskell PC Jr, Yamaoka LA, Bebout JL, Anderson L, Welsh KA, Clark CM, et al, Linkage analysis of familial Alzheimer disease, using chromosome 21 markers. Am J Hum Genet48:563-83 1991

PubMed ID: 1998342

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

Goudsmit J, White BJ, Weitkamp LR, Keats BJ, Morrow CH, Gajdusek DC, Familial Alzheimer's disease in two kindreds of the same geographic and ethnic origin. A clinical and genetic study. J Neurol Sci49:79-89 1981

PubMed ID: 7205322