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AG08527 Fibroblast from Skin, Arm

Description:

ALZHEIMER DISEASE; AD

Affected:

Yes

Sex:

Male

Age:

61 YR (At Sampling)

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

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection German Alzheimer Disease
Biopsy Source Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Arm
Race White
Ethnicity GERMAN
Family Member 19
Relation to Proband V-31
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks This donor was initially diagnosed as Parkinson's disease because he exhibited a slowing of movements. Within 1 year he developed problems with attention span and memory. Further progression of intellectual impairment necessitated assistance with all activities of daily living. Treatment with anti-Parkinsonian medications did not help motor or intellectual function. EEG revealed general slowing. CSF exam was remarkable for an increase in protein concentration. CT scan demonstrated widened sulci and ventricular dilatation. Autopsy confirmed Alzheimer's disease. The skin biopsy was taken ante-mortem from the forearm. Culture was initiated on 11/06/85 using explants of minced skin. The cell morphology is fibroblastlike. The culture is a mosaic with karyotype: 46,XY/46,X,-Y,+mar/46,XY, t(2;3)(2pter>2q37::3q21>3qter;3pter>3q21::2q37>2qter); unbalanced; 82%/ 15%/3%. Marker is heterochromatin positive. Culture was frozen at PDL 10. A lymphoblast culture from same donor is AG08526. 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 3.86
Passage Frozen 10
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks This donor was initially diagnosed as Parkinson's disease because he exhibited a slowing of movements. Within 1 year he developed problems with attention span and memory. Further progression of intellectual impairment necessitated assistance with all activities of daily living. Treatment with anti-Parkinsonian medications did not help motor or intellectual function. EEG revealed general slowing. CSF exam was remarkable for an increase in protein concentration. CT scan demonstrated widened sulci and ventricular dilatation. Autopsy confirmed Alzheimer's disease. The skin biopsy was taken ante-mortem from the forearm. Culture was initiated on 11/06/85 using explants of minced skin. The cell morphology is fibroblastlike. The culture is a mosaic with karyotype: 46,XY/46,X,-Y,+mar/46,XY, t(2;3)(2pter>2q37::3q21>3qter;3pter>3q21::2q37>2qter); unbalanced; 82%/ 15%/3%. Marker is heterochromatin positive. Culture was frozen at PDL 10. A lymphoblast culture from same donor is AG08526. 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
 
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
 
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
 
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
 
Frommelt P, Schnabel R, Kuhne W, Nee LE, Polinsky RJ, Familial Alzheimer disease: a large, multigeneration German kindred. Alzheimer Dis Assoc Disord5:36-43 1991
PubMed ID: 2025423
 
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

External Links

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dbSNP dbSNP ID: 18319
NCBI GTR 104300 ALZHEIMER DISEASE; AD
OMIM 104300 ALZHEIMER DISEASE; AD
Omim Description ALZHEIMER DISEASE, FAMILIAL; FAD
  ALZHEIMER DISEASE; AD
  PRESENILE AND SENILE DEMENTIA

Culture Protocols

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Cumulative PDL at Freeze 13.86
Passage Frozen 10
Split Ratio 1:2
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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