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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NIA Aging Cell Culture Repository
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| Subcollection |
Alzheimer's Disease |
| Quantity |
10ug |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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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 |
| |
| 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 |
107741.0015; 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. |
| Remarks |
The donor is clinically affected with Alzheimer's disease. Donor's deceased father was affected. The culture was initiated on 5/27/88 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. The karyotype is 46,XX; normal diploid female with 6% of the cells examined showing random chromosome loss. The at-risk sister of this donor is AG10037A. The APOE genotype of the donor subject is E3/E3. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Lee J, Liu Z, Tusing YG, Li C, Westin E, Li W, Zhao R, Generation of inducible pluripotent stem cell lines from Alzheimer's disease patients with APOE e3/e3 genotype Stem cell research55:102498 2021 |
| PubMed ID: 34392011 |
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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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