NG08170
DNA from Fibroblast
Description:
ALZHEIMER DISEASE, FAMILIAL, TYPE 3
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 |
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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12
|
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 |
4.84 |
Passage Frozen |
9 |
|
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 history of progressive memory loss beginning at age 55 preceded by 1-2 years of depression and social withdrawal. The donor exhibits global dementia with apraxia, emotional lability, and regressive reflexes. Gradual deterioration of intellectual functions has necessitated constant custodial care. The skin biopsy was taken ante-mortem from the forearm. Culture was initiated on 05/16/85 using explants of minced skin. Cell morphology is fibroblast-like. The karyotype is 46,XY,1qh+. Culture was frozen at PDL 7. A lymphoblast culture from same donor is AG08169B. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
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PubMed ID: 31829281 |
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Sarasija S, Laboy JT, Ashkavand Z, Bonner J, Tang Y, Norman KR, Presenilin mutations deregulate mitochondrial Ca eLife7:190 2017 |
PubMed ID: 29989545 |
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Coffey EE, Beckel JM, Laties AM, Mitchell CH, Lysosomal alkalization and dysfunction in human fibroblasts with the Alzheimer's disease-linked presenilin 1 A246E mutation can be reversed with cAMP Neuroscience7:190 2014 |
PubMed ID: 24418614 |
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PubMed ID: 20541250 |
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Mendonsa G, Dobrowolska J, Lin A, Vijairania P, Jong YJ, Baenziger NL, Molecular profiling reveals diversity of stress signal transduction cascades in highly penetrant Alzheimer's disease human skin fibroblasts PLoS ONE4:e4655 2008 |
PubMed ID: 19247475 |
|
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PubMed ID: 9576922 |
|
Hirashima N, Etcheberrigaray R, Bergamaschi S, Racchi M, Battaini F, Binetti G, Govoni S, Alkon DL, Calcium responses in human fibroblasts: a diagnostic molecular profile for Alzheimer's disease [see comments] Neurobiol Aging17:549-55 1996 |
PubMed ID: 8832629 |
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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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Kim CS, Han YF, Etcheberrigaray R, Nelson TJ, Olds JL, Yoshioka T, Alkon DL, Alzheimer and beta-amyloid-treated fibroblasts demonstrate a decrease in a memory-associated GTP-binding protein, Cp20. Proc Natl Acad Sci U S A92:3060-4 1995 |
PubMed ID: 7708775 |
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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 |
|
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 |
|
Etcheberrigaray E, Gibson GE, Alkon DL, Molecular mechanisms of memory and the pathophysiology of Alzheimer's disease. Ann N Y Acad Sci747:245-55 1994 |
PubMed ID: 7847674 |
|
Etcheberrigaray R, Ito E, Kim CS, Alkon DL, Soluble beta-amyloid induction of Alzheimer's phenotype for human fibroblast K+ channels. Science264:276-9 1994 |
PubMed ID: 8146663 |
|
Ito E, Oka K, Etcheberrigaray R, Nelson TJ, McPhie DL, Tofel-Grehl B, Gibson GE, Alkon DL, Internal Ca2+ mobilization is altered in fibroblasts from patients with Alzheimer disease. Proc Natl Acad Sci U S A91:534-8 1994 |
PubMed ID: 8290560 |
|
Etcheberrigaray R, Ito E, Oka K, Tofel-Grehl B, Gibson GE, Alkon DL, Potassium channel dysfunction in fibroblasts identifies patients with Alzheimer disease. Proc Natl Acad Sci U S A90:8209-13 1993 |
PubMed ID: 8367484 |
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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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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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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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