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AG10956 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

No Data

Age:

88 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 Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks The donor had autopsy confirmed Alzheimer's disease with an onset of symptoms after age 70. Donor's parent and 3 siblings are also affected. The donor was the product of a consanguineous marriage. The culture was initiated on 11/02/90 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. The karyotype is normal with 14% of the cells examined showing random chromosome loss. Donor's affected siblings are AG10984A, AG11001, and AG10987. A fibroblast culture from same donor is AG10788. The APOE genotype of the donor subject is E4/E4. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Characterizations

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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 1 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.
 
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 had autopsy confirmed Alzheimer's disease with an onset of symptoms after age 70. Donor's parent and 3 siblings are also affected. The donor was the product of a consanguineous marriage. The culture was initiated on 11/02/90 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. The karyotype is normal with 14% of the cells examined showing random chromosome loss. Donor's affected siblings are AG10984A, AG11001, and AG10987. A fibroblast culture from same donor is AG10788. The APOE genotype of the donor subject is E4/E4. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Publications

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Martin ES, Martin SE, Edelsohn L, Borgaonkar DS, Studies in a large family with late-onset Alzheimer disease (LOAD). Alzheimer Dis Assoc Disord11:163-70 1997
PubMed ID: 9305502
 
Borgaonkar DS, Schmidt LC, Martin SE, Kanzer MD, Edelsohn L, Growdon J, Farrer LA, Linkage of late-onset Alzheimer's disease with apolipoprotein E type 4 on chromosome 19 [letter] Lancet342:625 1993
PubMed ID: 8102761
 
Borgaonkar, Studies in a family with late on-set familial Alzheimers disease. Am J Hum Genet51:A337 (1992):625 1992
PubMed ID: 8102761

External Links

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dbSNP dbSNP ID: 10224
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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Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
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