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AG04159 Fibroblast from Skin, Arm

Description:

ALZHEIMER DISEASE, FAMILIAL, TYPE 3

Affected:

Yes

Sex:

Female

Age:

52 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 44
Relation to Proband VII-35
Confirmation Clinical summary/Case history
ISCN 46,XX,der(10)(10qter>10p15::11q13>11qter) [13]/46,XX[37]
Species Homo sapiens
Common Name Human
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.

Characterizations

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PDL at Freeze 6
Passage Frozen 5
 
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 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.

Publications

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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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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: 10076
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 6
Passage Frozen 5
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
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
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