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NG06841 DNA from LCL

Description:

ALZHEIMER DISEASE, FAMILIAL, TYPE 3
PRESENILIN 1; PSEN1
NIA AGING CELL REPOSITORY DNA PANEL - CHARACTERIZED MUTATIONS

Affected:

Yes

Sex:

Male

Age:

56 YR (At Sampling)

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

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Canadian Alzheimer Disease
Quantity 10ug
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Ethnicity CANADIAN
Family Member 20
Relation to Proband VII-13
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks The donor at time of blood sampling was oriented only to the year, had poor recent memory, was unable to do simple subtraction, and had regressive reflexes. He admitted to 6 months of increasing difficulty with memory, although a previous neuro exam at age 52 revealed problems with recent memory. Culture was initiated on 05/4/83 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. The karyotype is 46,XY; normal diploid male. A skin fibroblast culture from same donor is AG06840B. Cells carry missense mutation {Ala246Glu (A246E)} in the AD3 [presenilin 1 (PSEN1)] gene. 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 PSEN1
Chromosomal Location 14q24.3
Allelic Variant 1 104311.0003; ALZHEIMER DISEASE, FAMILIAL, TYPE 3
Identified Mutation ALA246GLU; In a pedigree with chromosome 14-linked early-onset Alzheimer disease, Sherrington et al. [Nature 375: 754-760 (1995)] identified an ala246-to-glu mutation in the novel gene they isolated from the region of chromosome 14 identified by linkage studies as containing the AD3 gene.

Phenotypic Data

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Remarks The donor at time of blood sampling was oriented only to the year, had poor recent memory, was unable to do simple subtraction, and had regressive reflexes. He admitted to 6 months of increasing difficulty with memory, although a previous neuro exam at age 52 revealed problems with recent memory. Culture was initiated on 05/4/83 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. The karyotype is 46,XY; normal diploid male. A skin fibroblast culture from same donor is AG06840B. Cells carry missense mutation {Ala246Glu (A246E)} in the AD3 [presenilin 1 (PSEN1)] gene. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Publications

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Martins RN, Turner BA, Carroll RT, Sweeney D, Kim KS, Wisniewski HM, Blass JP, Gibson GE, Gandy S, High levels of amyloid-beta protein from S182 (Glu246) familial Alzheimer's cells. Neuroreport7:217-20 1995
PubMed ID: 8742455
 
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: 10121
Gene Cards PSEN1
Gene Ontology GO:0000776 kinetochore
GO:0005515 protein binding
GO:0005624 membrane fraction
GO:0005639 integral to nuclear inner membrane
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005887 integral to plasma membrane
GO:0006916 anti-apoptosis
GO:0007001 chromosome organization and biogenesis (sensu Eukarya)
GO:0007059 chromosome segregation
GO:0007242 intracellular signaling cascade
GO:0016021 integral to membrane
NCBI Gene Gene ID:5663
NCBI GTR 104311 PRESENILIN 1; PSEN1
607822 ALZHEIMER DISEASE 3; AD
OMIM 104311 PRESENILIN 1; PSEN1
607822 ALZHEIMER DISEASE 3; AD
Omim Description ALZHEIMER DISEASE, FAMILIAL, TYPE 3; AD3
Pricing
Commercial:
$155.00USD
Academic &
Non-profit:
$72.00USD
NIA Grantees:
$62.00USD
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How to Order
  • Ordering Instructions
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  • Statement of Research Intent Form
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