Description:
APPARENTLY HEALTHY INDIVIDUAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Apparently Healthy Collection |
| Class |
Disorders of the Nervous System |
| Alternate IDs |
GM17259 [APPARENTLY HEALTHY INDIVIDUAL] |
| Quantity |
25 µg |
| 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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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis and Case history
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ISCN
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46,XY,i(18)(qter>q10::q10>qter)[5]/46,XY,add(18)(qter>p11.3::?)[3]/46,XY,r(18)(::p11.3>q23::)[3]/46,XY/[39]
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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 |
| |
| Remarks |
46,XY; 2% of cells show random chromosome loss |
| Willis JH, Isaya G, Gakh O, Capaldi RA, Marusich MF, Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers Molecular genetics and metabolism94:491-7 2008 |
| PubMed ID: 18485778 |
| |
| Gong Y, Beitelshees AL, Wessel J, Langaee TY, Schork NJ, Johnson JA, Single nucleotide polymorphism discovery and haplotype analysis of Ca2+-dependent K+ channel beta-1 subunit Pharmacogenetics and genomics17:267-75 2007 |
| PubMed ID: 17496725 |
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| 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 |
| |
| Lemieux N, Malfoy B, Forrest GL, Human carbonyl reductase (CBR) localized to band 21q22.1 by high- resolution fluorescence in situ hybridization displays gene dosage effects in trisomy 21 cells. Genomics15:169-72 1993 |
| PubMed ID: 8432528 |
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