Description:
APPARENTLY HEALTHY INDIVIDUAL
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities |
Alternate IDs |
GM17233 [APPARENTLY HEALTHY INDIVIDUAL] |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
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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Family Member
|
3
|
Relation to Proband
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parent
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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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Remarks |
A son has a r(17) and many features of neurofibromatosis; proband is not in Repository |
Sotamaa K, Liyanarachchi S, Mecklin JP, Järvinen H, Aaltonen LA, Peltomäki P, de la Chapelle A, p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome Clinical cancer research : an official journal of the American Association for Cancer Research11:6840-4 2005 |
PubMed ID: 16203772 |
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Manola KN, Terzoudi GI, Dardoufas CE, Malik SI, Pantelias GE, Radioprotective effect of amifostine on cells from cancer prone patients and healthy individuals studied by the G2 and PCC assays International journal of radiation biology79:831-8 2003 |
PubMed ID: 14630542 |
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