Description:
BASQUE POPULATION
HUMAN VARIATION PANEL - BASQUE
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Human Variation |
| 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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Ethnicity
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BASQUE
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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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| Remarks |
Basque country autochthonous population |
| Londin ER, Keller MA, Maista C, Smith G, Mamounas LA, Zhang R, Madore SJ, Gwinn K, Corriveau RA.
, CoAIMs: A Cost-Effective Panel of Ancestry Informative Markers for Determining Continental Origins.
Plos One5(10):e13443 2010 |
| PubMed ID: 20976178 |
| |
| Marini NJ, Gin J, Ziegle J, Keho KH, Ginzinger D, Gilbert DA, Rine J, The prevalence of folate-remedial MTHFR enzyme variants in humans Proceedings of the National Academy of Sciences of the United States of America5(10):e13443 2008 |
| PubMed ID: 18523009 |
| |
| Evans PD, Mekel-Bobrov N, Vallender EJ, Hudson RR, Lahn BT, Evidence that the adaptive allele of the brain size gene microcephalin introgressed into Homo sapiens from an archaic Homo lineage PROC NATL ACAD SCI USA103(48):18178-83 2006 |
| PubMed ID: 17090677 |
| |
| Evans PD, Gilbert SL, Mekel-Bobrov N, Vallender EJ, Anderson JR, Vaez-Azizi LM, Tishkoff SA, Hudson RR, Lahn BT, Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans. Science309(5741):1717-20 2005 |
| PubMed ID: 16151009 |
| |
| Mekel-Bobrov N, Gilbert SL, Evans PD, Vallender EJ, Anderson JR, Hudson RR, Tishkoff SA, Lahn BT, Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens. Science309(5741):1720-2 2005 |
| PubMed ID: 16151010 |
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