Description:
ALZHEIMER DISEASE; AD
APOLIPOPROTEIN E; APOE
NIA AGING CELL REPOSITORY DNA PANEL - EARLY ONSET FAMILIAL ALZHEIMER DISEASE
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Repository
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No Data
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| Subcollection |
Alzheimer's Disease |
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License Required
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No Data
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Sample Source
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No Data
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Subject Type
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No Data
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Family Type
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No Data
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Ethnicity
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No Data
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Family Member
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No Data
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Genetic Data
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No Data
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| PDL at Freeze |
11 |
| Passage Frozen |
5 |
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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 |
107741.0015; 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 |
107741.0016; 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. |
| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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