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 |
4.82 |
| Passage Frozen |
11 |
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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. |
| Zhou LT, Liu D, Kang HC, Lu L, Huang HZ, Ai WQ, Zhou Y, Deng MF, Li H, Liu ZQ, Zhang WF, Hu YZ, Han ZT, Zhang HH, Jia JJ, Sarkar AK, Sharaydeh S, Wang J, Man HY, Schilling M, Bertram L, Lu Y, Guo Z, Zhu LQ, Tau pathology epigenetically remodels the neuron-glial cross-talk in Alzheimer's disease Science advances9:eabq7105 2023 |
| PubMed ID: 37083538 |
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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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