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AG05810 Fibroblast from Skin, Arm

Description:

ALZHEIMER DISEASE; AD
APOLIPOPROTEIN E; APOE
NIA AGING CELL REPOSITORY DNA PANEL - LATE ONSET FAMILIAL ALZHEIMER DISEASE

Affected:

Yes

Sex:

Female

Age:

79 YR (At Sampling)

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

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Alzheimer's Disease
Biopsy Source Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Arm
Race White
Ethnicity JEWISH
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks The donor is clinically affected with severe late stage dementia, typical of Alzheimer's disease. Three sibs died with autopsy confirmed Alzheimer's disease. The biopsy was taken ante-mortem from skin of the right forearm, and the culture was initiated using explants of minced tissue. The cell morphology is fibroblast-like. The karyotype is 46,XX; normal diploid female. A skin fibroblast culture from donor's affected sister is AG05809B. The APOE genotype of the donor subject is E3/E4. 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 5.79
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
 
Gene APOE
Chromosomal Location 19q13.2
Allelic Variant 2 107741.0016; APOE4 ISOFORM
Identified Mutation CYS112ARG; Weisgraber et al. [J. Biol. Chem. 256: 9077-9083 (1981)], Das et al. [J. Biol. Chem. 260: 6240-6247 (1985)] and Paik et al. [Proc. Nat. Acad. Sci. 82: 3445-3449 (1985)] identified the apolipoprotein E4 isoform in which there is a Cys112-to-Arg substitution. This variant is found in 6% to 37% of individuals from different populations.

Phenotypic Data

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Remarks The donor is clinically affected with severe late stage dementia, typical of Alzheimer's disease. Three sibs died with autopsy confirmed Alzheimer's disease. The biopsy was taken ante-mortem from skin of the right forearm, and the culture was initiated using explants of minced tissue. The cell morphology is fibroblast-like. The karyotype is 46,XX; normal diploid female. A skin fibroblast culture from donor's affected sister is AG05809B. The APOE genotype of the donor subject is E3/E4. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Publications

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Kim H, Kim S, Cho B, Shin J, Kim J, APOE e4-dependent effects on the early amyloid pathology in induced neurons of patients with Alzheimer's disease Translational neurodegeneration11:45 2022
PubMed ID: 36284363
 
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
 
Duan L, Bhattacharyya BJ, Belmadani A, Pan L, Miller RJ, Kessler JA, Stem cell derived basal forebrain cholinergic neurons from Alzheimer's disease patients are more susceptible to cell death Mol Neurodegener9(1):3 2014
PubMed ID: 24401693
 
Khan TK, Alkon DL, An internally controlled peripheral biomarker for Alzheimer's disease: Erk1 and Erk2 responses to the inflammatory signal bradykinin Proceedings of the National Academy of Sciences of the United States of America103:13203-7 2006
PubMed ID: 16920798
 
Jenkins EC, Ye L, Gu H, Wisniewski HM, Mitotic index and Alzheimer's disease. Neuroreport9(17):3857-61 1998
PubMed ID: 9875718
 
Zebrower M, Beeber C, Kieras FJ, Characterization of proteoglycans in Alzheimer's disease fibroblasts. Biochem Biophys Res Commun184:1293-300 1992
PubMed ID: 1590792
 
Van Huynh T, Cole G, Katzman R, Huang KP, Saitoh T, Reduced protein kinase C immunoreactivity and altered protein phosphorylation in Alzheimer's disease fibroblasts. Arch Neurol46:1195-9 1989
PubMed ID: 2684108
 
Peterson C, Ratan RR, Shelanski ML, Goldman JE, Altered response of fibroblasts from aged and Alzheimer donors to drugs that elevate cytosolic free calcium. Neurobiol Aging9:261-6 1988
PubMed ID: 3398992
 
Sims NR, Finegan JM, Blass JP, Altered metabolic properties of cultured skin fibroblasts in Alzheimer's disease. Ann Neurol21:451-7 1987
PubMed ID: 3109316
 
Peterson C, Goldman JE, Alterations in calcium content and biochemical processes in cultured skin fibroblasts from aged and Alzheimer donors. Proc Natl Acad Sci U S A83:2758-62 1986
PubMed ID: 3458236
 
Peterson C, Ratan RR, Shelanski ML, Goldman JE, Cytosolic free calcium and cell spreading decrease in fibroblasts from aged and Alzheimer donors. Proc Natl Acad Sci U S A83:7999-8001 1986
PubMed ID: 3464016
 
Li JC, Kaminskas E, Deficient repair of DNA lesions in Alzheimer's disease fibroblasts. Biochem Biophys Res Commun129:733-8 1985
PubMed ID: 2409969
 
Peterson C, Gibson GE, Blass JP, Altered calcium uptake in cultured skin fibroblasts from patients with Alzheimer's disease [letter] N Engl J Med312:1063-5 1985
PubMed ID: 3982463
 
Sims NR, Finegan JM, Blass JP, Altered glucose metabolism in fibroblasts from patients with Alzheimer's disease [letter] N Engl J Med313:638-9 1985
PubMed ID: 4022053

External Links

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dbSNP dbSNP ID: 10102
Gene Cards APOE
Gene Ontology GO:0000302 response to reactive oxygen species
GO:0001540 beta-amyloid binding
GO:0005319 lipid transporter activity
GO:0005576 extracellular
GO:0005737 cytoplasm
GO:0006869 lipid transport
GO:0006917 induction of apoptosis
GO:0007010 cytoskeleton organization and biogenesis
GO:0007271 synaptic transmission, cholinergic
GO:0007611 learning and/or memory
GO:0008015 circulation
GO:0008201 heparin binding
GO:0008289 lipid binding
GO:0016209 antioxidant activity
GO:0030516 regulation of axon extension
GO:0042157 lipoprotein metabolism
GO:0042632 cholesterol homeostasis
GO:0046907 intracellular transport
GO:0048156 tau protein binding
GO:0048168 regulation of neuronal synaptic plasticity
GO:0050749 apolipoprotein E receptor binding
GO:0050750 low-density lipoprotein receptor binding
NCBI Gene Gene ID:348
NCBI GTR 104300 ALZHEIMER DISEASE; AD
107741 APOLIPOPROTEIN E; APOE
OMIM 104300 ALZHEIMER DISEASE; AD
107741 APOLIPOPROTEIN E; APOE
Omim Description ALZHEIMER DISEASE, FAMILIAL; FAD
  ALZHEIMER DISEASE; AD
  PRESENILE AND SENILE DEMENTIA

Culture Protocols

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Passage Frozen 9
Split Ratio 1:4
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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