NG05810
DNA from Fibroblast
Description:
ALZHEIMER DISEASE; AD
APOLIPOPROTEIN E; APOE
NIA AGING CELL REPOSITORY DNA PANEL - LATE 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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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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JEWISH
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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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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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| PDL at Freeze |
5.79 |
| Passage Frozen |
9 |
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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 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. |
| Remarks |
The donor is clinically affected with severe late stage dementia, typical of Alzheimer's disease. Three sibs died with autopsy confirmed Alzheimer's disease. The biopsy was taken ante-mortem from skin of the right forearm, and the culture was initiated using explants of minced tissue. The cell morphology is fibroblast-like. The karyotype is 46,XX; normal diploid female. A skin fibroblast culture from donor's affected sister is AG05809B. 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. |
| Kim H, Kim S, Cho B, Shin J, Kim J, APOE e4-dependent effects on the early amyloid pathology in induced neurons of patients with Alzheimer's disease Translational neurodegeneration11:45 2022 |
| PubMed ID: 36284363 |
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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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| Jenkins EC, Ye L, Gu H, Wisniewski HM, Mitotic index and Alzheimer's disease. Neuroreport9(17):3857-61 1998 |
| PubMed ID: 9875718 |
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| Zebrower M, Beeber C, Kieras FJ, Characterization of proteoglycans in Alzheimer's disease fibroblasts. Biochem Biophys Res Commun184:1293-300 1992 |
| PubMed ID: 1590792 |
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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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| Li JC, Kaminskas E, Deficient repair of DNA lesions in Alzheimer's disease fibroblasts. Biochem Biophys Res Commun129:733-8 1985 |
| PubMed ID: 2409969 |
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| Peterson C, Gibson GE, Blass JP, Altered calcium uptake in cultured skin fibroblasts from patients with Alzheimer's disease [letter] N Engl J Med312:1063-5 1985 |
| PubMed ID: 3982463 |
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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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