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AG08446 Fibroblast from Skin, Arm

Description:

ALZHEIMER DISEASE; AD

Affected:

No Data

Sex:

Male

Age:

38 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 Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Arm
Race White
Ethnicity ITALIAN
Family Member 41
Relation to Proband VI-2085
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks The donor admits to occasional problems with memory, collateral family history indicates a progressive deterioration in psychosocial function attended by an increase in intellectual impairment. Neurological exams have shown changes in his mental status characterized by disorientation to time, poor recent memory, dyscalculia, and decreased attention span. EEG and CSF exams were normal. MRI scan revealed diffuse cerebral atrophy. The skin biopsy was taken ante-mortem from the forearm. Culture was initiated on 10/10/85 using explants of minced skin. The cell morphology is fibroblast-like. Culture was frozen at PDL 2. A lymphoblast culture from same donor is AG08445.

Characterizations

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PDL at Freeze 2
Passage Frozen 2
 

Phenotypic Data

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Remarks The donor admits to occasional problems with memory, collateral family history indicates a progressive deterioration in psychosocial function attended by an increase in intellectual impairment. Neurological exams have shown changes in his mental status characterized by disorientation to time, poor recent memory, dyscalculia, and decreased attention span. EEG and CSF exams were normal. MRI scan revealed diffuse cerebral atrophy. The skin biopsy was taken ante-mortem from the forearm. Culture was initiated on 10/10/85 using explants of minced skin. The cell morphology is fibroblast-like. Culture was frozen at PDL 2. A lymphoblast culture from same donor is AG08445.

Publications

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Schrank S, McDaid J, Briggs CA, Mustaly-Kalimi S, Brinks D, Houcek A, Singer O, Bottero V, Marr RA, Stutzmann GE, Human-Induced Neurons from Presenilin 1 Mutant Patients Model Aspects of Alzheimer's Disease Pathology International journal of molecular sciences21: 2020
PubMed ID: 32033164
 
Querfurth HW, Wijsman EM, St George-Hyslop PH, Selkoe DJ, Beta APP mRNA transcription is increased in cultured fibroblasts from the familial Alzheimer's disease-1 family. Brain Res Mol Brain Res28(2):319-37 1995
PubMed ID: 7723630
 
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: 17662
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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Cumulative PDL at Freeze 2
Passage Frozen 2
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
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