NG04159
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 |
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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CANADIAN
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Family Member
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44
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Relation to Proband
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VII-35
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX,der(10)(10qter>10p15::11q13>11qter) [13]/46,XX[37]
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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 |
6 |
| 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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| Remarks |
The donor has a history of complex partial seizures for 40 years which have been controlled by anticonvulsants. Dementia beginning in early 1970's has progressed with severe memory and language impairment. Neuro exam confirms severe dementia and regressive reflexes. CT scan shows generalized atrophy and ventricular dilatation. The skin biopsy was taken ante-mortem from the forearm. Culture was initiated on 06/20/80 using explants of minced skin. Cell morphology is fibroblast-like. The culture is a mosaic. A lymphoblast culture from same donor is AG04160C. |
| 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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| Lee JH, Yu WH, Kumar A, Lee S, Mohan PS, Peterhoff CM, Wolfe DM, Martinez-Vicente M, Massey AC, Sovak G, Uchiyama Y, Westaway D, Cuervo AM, Nixon RA, Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations Cell141:1146-58 2008 |
| PubMed ID: 20541250 |
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| Parshad RP, Sanford KK, Price FM, Melnick LK, Nee LE, Schapiro MB, Tarone RE, Robbins JH, Fluorescent light-induced chromatid breaks distinguish Alzheimer disease cells from normal cells in tissue culture. Proc Natl Acad Sci U S A93:5146-50 1996 |
| PubMed ID: 8643543 |
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| Link CJ Jr, Robbins JH, Bohr VA, Gene specific DNA repair of damage induced in familial Alzheimer disease cells by ultraviolet irradiation or by nitrogen mustard. Mutat Res336:115-21 1995 |
| PubMed ID: 7885382 |
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| Querfurth HW, Wijsman EM, St George-Hyslop PH, Selkoe DJ, Beta APP mRNA transcription is increased in cultured fibroblasts from the familial Alzheimer's disease-1 family. Brain Res Mol Brain Res28(2):319-37 1995 |
| PubMed ID: 7723630 |
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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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| 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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| Scudiero DA, Polinsky RJ, Brumback RA, Tarone RE, Nee LE, Robbins JH, Alzheimer disease fibroblasts are hypersensitive to the lethal effects of a DNA-damaging chemical. Mutat Res159:125-31 1986 |
| PubMed ID: 3941662 |
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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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