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AG07638 LCL from B-Lymphocyte

Description:

ALZHEIMER DISEASE, FAMILIAL, TYPE 3

Affected:

Yes

Sex:

Female

Age:

55 YR (At Sampling)

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

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Canadian Alzheimer 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 22
Relation to Proband VII-14
Confirmation Clinical summary/Case history
ISCN 46,XX
Species Homo sapiens
Common Name Human
Remarks The donor has had a gradual progressive decline in concentration and memory for 2 years. Neuro exam revealed impairment of recent memory, speech perseveration, dyscalculia, reduced digit span, poor insight, motor apraxia, and a snout reflex. CSF exam and CT scan were normal. EEG revealed diffuse slowing with low voltage background activity. Culture was initiated on 05/24/84 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. The karyotype is 46,XX; normal diploid female. A skin fibroblast culture from same donor is AG07637A. 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
 

Phenotypic Data

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Remarks The donor has had a gradual progressive decline in concentration and memory for 2 years. Neuro exam revealed impairment of recent memory, speech perseveration, dyscalculia, reduced digit span, poor insight, motor apraxia, and a snout reflex. CSF exam and CT scan were normal. EEG revealed diffuse slowing with low voltage background activity. Culture was initiated on 05/24/84 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. The karyotype is 46,XX; normal diploid female. A skin fibroblast culture from same donor is AG07637A. The legacy karyotype description shown in this Remark may not be representative of the current available product.

Publications

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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: 10150
NCBI GTR 607822 ALZHEIMER DISEASE 3; AD
OMIM 607822 ALZHEIMER DISEASE 3; AD
Omim Description ALZHEIMER DISEASE, FAMILIAL, TYPE 3; AD3

Images

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View karyotype 

Culture Protocols

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Supplement -
Pricing
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
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How to Order
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