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
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Alternate IDs |
GM17114 [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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Black/African American
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Family Member
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1
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Relation to Proband
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proband
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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 |
| |
| Remarks |
Apparently Healthy individual with a body mass index (BMI) within normal range; non-obese control; body mass index = 23; 169 pounds; dyzygotic twin brother is GM14538; dyzygotic using 28 STRs |
| Suganuma T, Workman JL, MPTAC links alkylation damage signaling to sterol biosynthesis Redox biology51:102270 2021 |
| PubMed ID: 35189552 |
| |
| Ames D, Murphy N, Helentjaris T, Sun N, Chandler VL, Comparative analyses of human single- and multi-locus tandem repeats Genetics51:102270 2008 |
| PubMed ID: 18562644 |
| |
| Kim HL, Satta Y, Population genetic analysis of the N-acylsphingosine amidohydrolase gene associated with mental activity in humans Genetics178:1505-15 2008 |
| PubMed ID: 18245333 |
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| Atwal GS, Bond GL, Metsuyanim S, Papa M, Friedman E, Distelman-Menachem T, Ben Asher E, Lancet D, Ross DA, Sninsky J, White TJ, Levine AJ, Yarden R, Haplotype structure and selection of the MDM2 oncogene in humans Proceedings of the National Academy of Sciences of the United States of America104:4524-9 2007 |
| PubMed ID: 17360557 |
| |
| Harris SL, Gil G, Robins H, Hu W, Hirshfield K, Bond E, Bond G, Levine AJ, Detection of functional single-nucleotide polymorphisms that affect apoptosis Proceedings of the National Academy of Sciences of the United States of America102:16297-302 2005 |
| PubMed ID: 16260726 |
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