Description:
APPARENTLY HEALTHY INDIVIDUAL
MONOZYGOTIC TWIN PAIRS
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 |
GM17177 [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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Black/African American
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Family Member
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1
|
Relation to Proband
|
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 = 26; 155 pounds; monozygotic twin sister is GM14477; monozygotic using 20 STRs |
Kanji CR, Mbavha BT, Masimirembwa C, Thelingwani RS, Analytical validation of GenoPharm a clinical genotyping open array panel of 46 pharmacogenes inclusive of variants unique to people of African ancestry PloS one18:e0292131 2023 |
PubMed ID: 37788265 |
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Gill PS, Yu FB, Porter-Gill PA, Boyanton BL, Allen JC, Farrar JE, Veerapandiyan A, Prodhan P, Bielamowicz KJ, Sellars E, Burrow A, Kennedy JL, Clothier JL, Becton DL, Rule D, Schaefer GB, Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital Journal of personalized medicine11:e0292131 2021 |
PubMed ID: 34064668 |
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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 |
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Tobler AR, Short S, Andersen MR, Paner TM, Briggs JC, Lambert SM, Wu PP, Wang Y, Spoonde AY, Koehler RT, Peyret N, Chen C, Broomer AJ, Ridzon DA, Zhou H, Hoo BS, Hayashibara KC, Leong LN, Ma CN, Rosenblum BB, Day JP, Ziegle JS, De La Vega FM, Rhodes MD, Hennessy KM, Wenz HM, The SNPlex genotyping system: a flexible and scalable platform for SNP genotyping Journal of biomolecular techniques : JBT16:398-406 2006 |
PubMed ID: 16522862 |
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De La Vega FM, Isaac H, Collins A, Scafe CR, Halldorsson BV, Su X, Lippert RA, Wang Y, Laig-Webster M, Koehler RT, Ziegle JS, Wogan LT, Stevens JF, Leinen KM, Olson SJ, Guegler KJ, You X, Xu LH, Hemken HG, Kalush F, Itakura M, Zheng Y, de The G, O'Brien SJ, Clark AG, Istrail S, Hunkapiller MW, Spier EG, Gilbert DA, The linkage disequilibrium maps of three human chromosomes across four populations reflect their demographic history and a common underlying recombination pattern. Genome Res15(4):454-62 2005 |
PubMed ID: 15781572 |
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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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