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AG08170 Fibroblast from Skin, Arm

Description:

ALZHEIMER DISEASE, FAMILIAL, TYPE 3

Affected:

Yes

Sex:

Male

Age:

56 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Canadian Alzheimer Disease
Biopsy Source Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Arm
Race White
Ethnicity CANADIAN
Family Member 12
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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.

Characterizations

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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
 

Phenotypic Data

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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.

Publications

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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
 
Sarasija S, Laboy JT, Ashkavand Z, Bonner J, Tang Y, Norman KR, Presenilin mutations deregulate mitochondrial Ca eLife7:190 2017
PubMed ID: 29989545
 
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
 
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
 
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
 
Favit A, Grimaldi M, Nelson TJ, Alkon DL, Alzheimer's-specific effects of soluble beta-amyloid on protein kinase C-alpha and -gamma degradation in human fibroblasts. Proc Natl Acad Sci U S A95(10):5562-7 1998
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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

External Links

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dbSNP dbSNP ID: 16081
NCBI GTR 607822 ALZHEIMER DISEASE 3; AD
OMIM 607822 ALZHEIMER DISEASE 3; AD
Omim Description ALZHEIMER DISEASE, FAMILIAL, TYPE 3; AD3

Culture Protocols

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Cumulative PDL at Freeze 12.84
Passage Frozen 9
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Supplement -
Pricing
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
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