AG04402

AG04402 Fibroblast from Skin, Arm

Description:

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

Affected:

Yes

Sex:

Male

Age:

47 YR (At Sampling)

Overview

Repository

NIA Aging Cell Culture Repository

Subcollection

Alzheimer's Disease

Biopsy Source

Arm

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Arm

Race

White

Family Member

Relation to Proband

brother

Confirmation

Clinical summary/Case history

ISCN

45,X{6}/46,XY{86}/46,XY,del(11)(q2?){8}

Species

Homo sapiens

Common Name

Human

Remarks

The donor is a clinically affected member of a family with Alzheimer's disease with signs of early dementia, inappropriate jocularity and occasional paraphrasias. Fibroblast cultures from 2 affected sibs are AG04400A and AG04401D. The biopsy was taken ante-mortem from skin of the right forearm. The culture was initiated on 10/17/80 using explants of minced tissue. The cell morphology is fibroblast-like. The culture is a mosaic with karyotype: 45,X/46,XY/46,XY,del(11)(q2?); 6%/86%/8% with 8% of the cells examined showing random chromosome loss and 2% showing random chromosomal aberrations. 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.

Characterizations

PDL at Freeze

Passage Frozen

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

107741.0015; 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.

Phenotypic Data

Remarks

Publications

Iannuzzi F, Frisardi V, Annunziato L, Matrone C, Might Fibroblasts from Patients with Alzheimer's Disease Reflect the Brain Pathology? A Focus on the Increased Phosphorylation of Amyloid Precursor Protein Tyr Brain sciences11: 2020

PubMed ID: 33466666

Joshi AU, Van Wassenhove LD, Logas KR, Minhas PS, Andreasson KI, Weinberg KI, Chen CH, Mochly-Rosen D, Aldehyde dehydrogenase 2 activity and aldehydic load contribute to neuroinflammation and Alzheimer's disease related pathology Acta neuropathologica communications7:190 2019

PubMed ID: 31829281

Duan L, Bhattacharyya BJ, Belmadani A, Pan L, Miller RJ, Kessler JA, Stem cell derived basal forebrain cholinergic neurons from Alzheimer's disease patients are more susceptible to cell death Mol Neurodegener9(1):3 2014

PubMed ID: 24401693

Khan TK, Alkon DL, An internally controlled peripheral biomarker for Alzheimer's disease: Erk1 and Erk2 responses to the inflammatory signal bradykinin Proceedings of the National Academy of Sciences of the United States of America103:13203-7 2006

PubMed ID: 16920798

Huang HM, Gibson GE, Altered beta-adrenergic receptor-stimulated cAMP formation in cultured skin fibroblasts from Alzheimer donors. J Biol Chem268:14616-21 1993

PubMed ID: 8100816

McCoy KR, Mullins RD, Newcomb TG, Ng GM, Pavlinkova G, Polinsky RJ, Nee LE, Sisken JE, Serum- and bradykinin-induced calcium transients in familial Alzheimer's fibroblasts. Neurobiol Aging14:447-55 1993

PubMed ID: 8247227

Huang HM, Toral-Barza L, Thaler H, Tofel-Grehl B, Gibson GE, Inositol phosphates and intracellular calcium after bradykinin stimulation in fibroblasts from young, normal aged and Alzheimer donors. Neurobiol Aging12:469-73 1991

PubMed ID: 1770982

Van Huynh T, Cole G, Katzman R, Huang KP, Saitoh T, Reduced protein kinase C immunoreactivity and altered protein phosphorylation in Alzheimer's disease fibroblasts. Arch Neurol46:1195-9 1989

PubMed ID: 2684108

Peterson C, Ratan RR, Shelanski ML, Goldman JE, Altered response of fibroblasts from aged and Alzheimer donors to drugs that elevate cytosolic free calcium. Neurobiol Aging9:261-6 1988

PubMed ID: 3398992

Sims NR, Finegan JM, Blass JP, Altered metabolic properties of cultured skin fibroblasts in Alzheimer's disease. Ann Neurol21:451-7 1987

PubMed ID: 3109316

Peterson C, Goldman JE, Alterations in calcium content and biochemical processes in cultured skin fibroblasts from aged and Alzheimer donors. Proc Natl Acad Sci U S A83:2758-62 1986

PubMed ID: 3458236

Peterson C, Ratan RR, Shelanski ML, Goldman JE, Cytosolic free calcium and cell spreading decrease in fibroblasts from aged and Alzheimer donors. Proc Natl Acad Sci U S A83:7999-8001 1986

PubMed ID: 3464016

Sims NR, Blass JP, Phosphofructokinase activity in fibroblasts from patients with Alzheimer's disease and age- and sex-matched controls. Metab Brain Dis1:83-90 1986

PubMed ID: 2977422

Sims NR, Finegan JM, Blass JP, Altered glucose metabolism in fibroblasts from patients with Alzheimer's disease [letter] N Engl J Med313:638-9 1985

PubMed ID: 4022053