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NG09905 DNA from LCL

Description:

ALZHEIMER DISEASE, FAMILIAL, TYPE 4
PRESENILIN 2; PSEN2

Affected:

Yes

Sex:

Male

Age:

72 YR (At Sampling)

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

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Alzheimer's Disease
Quantity 10 µg
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 GERMAN
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XY,del(16)(pter>q11.1:)[4]/46,XY[46]
Species Homo sapiens
Common Name Human
Remarks The donor (Volga German) exhibited progressive dementia. The donor's mother and two younger sisters were affected with Alzheimer disease. The culture was initiated on 11/11/86 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 heterozygous substitution (A>T at nucleotide 787) in the AD4 [presenilin 2 (PSEN2)] gene results in an Asn141Ile (N141I) missense mutation. 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, Lactate Dehydrogenase, and Malate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis
 
Gene PSEN2
Chromosomal Location 1q31-q42
Allelic Variant 1 600759.0001; ALZHEIMER DISEASE, FAMILIAL, TYPE 4
Identified Mutation ASN141ILE; In 3 out of 4 pedigrees of Volga German ancestry, Rogaev et al. [Nature 376: 775-778 (1995)] found heterozygosity for an A-to-T substitution at nucleotide 787 causing an asn141-to-ile (N141I) missense mutation in probands affected with Alzheimer disease. Presumably this mutation achieved high frequency in the Volga Germans through founder effect.

Phenotypic Data

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Remarks The donor (Volga German) exhibited progressive dementia. The donor's mother and two younger sisters were affected with Alzheimer disease. The culture was initiated on 11/11/86 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 heterozygous substitution (A>T at nucleotide 787) in the AD4 [presenilin 2 (PSEN2)] gene results in an Asn141Ile (N141I) missense mutation. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Publications

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Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T, et al, Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature376:775-8 1995
PubMed ID: 7651536
 
Schellenberg GD, Bird TD, Wijsman EM, Orr HT, Anderson L, Nemens E, White JA, Bonnycastle L, Weber JL, Alonso ME, et al, Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science258:668-71 1992
PubMed ID: 1411576
 
Schellenberg GD, Pericak-Vance MA, Wijsman EM, Moore DK, Gaskell PC Jr, Yamaoka LA, Bebout JL, Anderson L, Welsh KA, Clark CM, et al, Linkage analysis of familial Alzheimer disease, using chromosome 21 markers. Am J Hum Genet48:563-83 1991
PubMed ID: 1998342
 
Bird TD, Sumi SM, Nemens EJ, Nochlin D, Schellenberg G, Lampe TH, Sadovnick A, Chui H, Miner GW, Tinklenberg J, Phenotypic heterogeneity in familial Alzheimer's disease: a study of 24 kindreds. Ann Neurol25:12-25 1989
PubMed ID: 2913924
 
Bird TD, Lampe TH, Nemens EJ, Miner GW, Sumi SM, Schellenberg GD, Familial Alzheimer's disease in American descendants of the Volga Germans: probable genetic founder effect. Ann Neurol23:25-31 1988
PubMed ID: 3345066
 
Cook RH, Ward BE, Austin JH, Studies in aging of the brain: IV. Familial Alzheimer disease: Relation to transmissible dementia, aneuploidy, and microtubular defects. Neurology29:1402-12 1979
PubMed ID: 384295

External Links

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dbSNP dbSNP ID: 19538
Gene Cards PSEN2
Gene Ontology GO:0000776 kinetochore
GO:0005639 integral to nuclear inner membrane
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005887 integral to plasma membrane
GO:0007001 chromosome organization and biogenesis (sensu Eukarya)
GO:0007059 chromosome segregation
GO:0007242 intracellular signaling cascade
GO:0008632 apoptotic program
GO:0016021 integral to membrane
NCBI Gene Gene ID:5664
NCBI GTR 600759 PRESENILIN 2; PSEN2
606889 ALZHEIMER DISEASE 4
OMIM 600759 PRESENILIN 2; PSEN2
606889 ALZHEIMER DISEASE 4
Omim Description ALZHEIMER DISEASE, FAMILIAL, TYPE 4; AD4

Images

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View karyotype 
Pricing
Commercial:
$155.00USD
Academic &
Non-profit:
$72.00USD
NIA Grantees:
$62.00USD
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