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AG08109 LCL from B-Lymphocyte

Description:

ALZHEIMER DISEASE; AD

Affected:

Yes

Sex:

Female

Age:

43 YR (At Sampling)

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

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Italian 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
Ethnicity ITALIAN
Family Member 40
Relation to Proband VI-2084
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks The donor developed gradual loss of short term memory and word-finding difficulty at approximately age 36. Her neurological exam was remarkable for disorientation to place and time, poor recent memory, mild expressive aphasia, and dyscalculia. EEG was abnormal with low voltage, irregular, disorganized background rhythm with some diffuse paroxysmal activity. CSF exam was normal. CT scan revealed prominant sulci and borderline ventricular dilatation. She now requires custodial care and has developed diffuse myoclonic jerks. The culture was initiated on 08/04/87 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. There is some variation noted in the q22.1>qter area of chromosome 21. A skin fibroblast culture from same donor is AG08110. 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 developed gradual loss of short term memory and word-finding difficulty at approximately age 36. Her neurological exam was remarkable for disorientation to place and time, poor recent memory, mild expressive aphasia, and dyscalculia. EEG was abnormal with low voltage, irregular, disorganized background rhythm with some diffuse paroxysmal activity. CSF exam was normal. CT scan revealed prominant sulci and borderline ventricular dilatation. She now requires custodial care and has developed diffuse myoclonic jerks. The culture was initiated on 08/04/87 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. There is some variation noted in the q22.1>qter area of chromosome 21. A skin fibroblast culture from same donor is AG08110. 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
 
Foncin, Presenile Alzheimer's disease in a large kindred. Rev Neurol141:194 (1985):885-90 1985
PubMed ID: 4001707

External Links

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dbSNP dbSNP ID: 21098
NCBI GTR 104300 ALZHEIMER DISEASE; AD
OMIM 104300 ALZHEIMER DISEASE; AD
Omim Description ALZHEIMER DISEASE, FAMILIAL; FAD
  ALZHEIMER DISEASE; AD
  PRESENILE AND SENILE DEMENTIA

Culture Protocols

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Split Ratio 1:4
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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