Description:
ALZHEIMER DISEASE, FAMILIAL, TYPE 4
PRESENILIN 2; PSEN2
NIA AGING CELL REPOSITORY DNA PANEL - CHARACTERIZED MUTATIONS
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Alzheimer's Disease |
| Quantity |
10ug |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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GERMAN
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Family Member
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2
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Relation to Proband
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sister
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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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 |
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| 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. |
| Remarks |
The donor (Volga German) is a clinically affected member of an Alzheimer disease family. Donor's paternal grandfather, aunt, 2 cousins, and 3 siblings were affected. The culture was initiated by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. Affected sister of this donor is AG09908. The karyotype is 46,XX with 2% of the cells examined showing random chromosome loss and 2% showing random chromosomal abnormalities. 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. |
| 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 |
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| 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 |
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| 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 |
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| 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 |
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