NG06846
DNA from Fibroblast
Description:
ALZHEIMER DISEASE, FAMILIAL, TYPE 3
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Canadian Alzheimer Disease |
| Quantity |
10 µg |
| 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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CANADIAN
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Family Member
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9
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Relation to Proband
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VI-33
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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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| PDL at Freeze |
11 |
| Passage Frozen |
6 |
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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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| Remarks |
The donor was an escapee from Alzheimer's disease. The skin biopsy was taken ante-mortem from the forearm. Culture was initiated on 05/04/83 using explants of minced skin. The cell morphology is fibroblast-like. The karyotype is 46,XX with 6% of cells examined showing random chromosome loss and 2% showing random chromosomal aberrations. Culture was frozen at PDL 11. A lymphoblast culture from same donor is AG06874A. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| 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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| Muñoz SS1, Balez R1, Castro Cabral-da-Silva ME1, Berg T1, Engel M1, Bax M1, Do-Ha D1, Stevens CH1, Greenough M2, Bush A2, Ooi L3., Generation and characterization of human induced pluripotent stem cell lines from a familial Alzheimer's disease PSEN1 A246E patient and a non-demented family member bearing wild-type PSEN1 Stem Cell Research31:227-230 2018 |
| PubMed ID: 30138848 |
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| Martins RN, Turner BA, Carroll RT, Sweeney D, Kim KS, Wisniewski HM, Blass JP, Gibson GE, Gandy S, High levels of amyloid-beta protein from S182 (Glu246) familial Alzheimer's cells. Neuroreport7:217-20 1995 |
| PubMed ID: 8742455 |
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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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| St George-Hyslop PH, Tanzi RE, Polinsky RJ, Haines JL, Nee L, Watkins PC, Myers RH, Feldman RG, Pollen D, Drachman D, et al, The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science235:885-90 1987 |
| PubMed ID: 2880399 |
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| Nee LE, Polinsky RJ, Eldridge R, Weingartner H, Smallberg S, Ebert M, A family with histologically confirmed Alzheimer's disease. Arch Neurol40:203-8 1983 |
| PubMed ID: 6600923 |
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