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AG06844 Fibroblast from Skin, Arm

Description:

ALZHEIMER DISEASE, FAMILIAL, TYPE 3

Affected:

Yes

Sex:

Male

Age:

59 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 42
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks The donor had a history of progressive memory impairment, confusion, and disorientation with onset at age 49. Neuro exam at age 54 confirmed a moderate global dementia. CSF exam was normal. EEG showed poorly organized background with diffuse slowing. CT scan revealed generalized cortical atrophy. Death occurred at age 60 with autopsy confirmation of Alzheimer's disease. Three offspring are also affected. 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. Karyotype is 46,XY; normal diploid male. Culture was frozen at PDL 10. A lymphoblast culture from same donor is AG07647A. 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 4.09
Passage Frozen 8
 
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 had a history of progressive memory impairment, confusion, and disorientation with onset at age 49. Neuro exam at age 54 confirmed a moderate global dementia. CSF exam was normal. EEG showed poorly organized background with diffuse slowing. CT scan revealed generalized cortical atrophy. Death occurred at age 60 with autopsy confirmation of Alzheimer's disease. Three offspring are also affected. 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. Karyotype is 46,XY; normal diploid male. Culture was frozen at PDL 10. A lymphoblast culture from same donor is AG07647A. The legacy karyotype description shown in this Remark may not be representative of the current available product.

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
 
Jenkins EC, Ye L, Gu H, Wisniewski HM, Mitotic index and Alzheimer's disease. Neuroreport9(17):3857-61 1998
PubMed ID: 9875718
 
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
 
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, 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
 
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: 22187
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 12.09
Passage Frozen 8
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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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