Description:
HUMAN VARIATION PANEL - MEXICAN-AMERICAN COMMUNITY OF LOS ANGELES PANEL OF 100 (VERSION 2)
HUMAN VARIATION PANEL - MEXICAN-AMERICAN COMMUNITY OF LOS ANGELES PANEL OF 8
HUMAN VARIATION PANEL - MEXICAN-AMERICAN COMMUNITY OF LOS ANGELES PANEL OF 16
HUMAN VARIATION PANEL - MEXICAN-AMERICAN COMMUNITY OF LOS ANGELES PANEL OF 24
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Human Variation GeT-RM Samples Pharmacogenetics dbGaP |
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
|
Hispanic/Latino
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Ethnicity
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MEXICAN-AMERICAN
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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 |
|
Pharmacogenomics Panel |
For pharmacogenetic variants please click here: GeT-RM PGx Search |
|
Remarks |
Mexican-American; all four grandparents were born in Mexico |
Moon MH, Hong SR, Shin KJ, Sequence Variations of 31 ?-Chromosomal Short Tandem Repeats Analyzed by Massively Parallel Sequencing in Three US Population Groups and Korean Population Journal of Korean medical science37:e40 2021 |
PubMed ID: 35166077 |
|
Pratt VM, Turner A, Broeckel U, Dawson DB, Gaedigk A, Lynnes TC, Medeiros EB, Moyer AM, Requesens D, Ventrini F, Kalman LV, Characterization of Reference Materials for CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, GGCX, and Other Pharmacogenetic Alleles with an Association for Molecular Pathology (AMP) Pharmacogenetics Working Group Tier 2 Status - A GeT-RM Collaborative Project The Journal of molecular diagnostics : JMD37:e40 2021 |
PubMed ID: 34020041 |
|
Kwon YL, Kim BM, Lee EY, Shin KJ, Massively parallel sequencing of 25 autosomal STRs including SE33 in four population groups for forensic applications Scientific reports11:4701 2020 |
PubMed ID: 33633141 |
|
Pratt VM, Zehnbauer B, Wilson JA, Baak R, Babic N, Bettinotti M, Buller A, Butz K, Campbell M, Civalier C, El-Badry A, Farkas DH, Lyon E, Mandal S, McKinney J, Muralidharan K, Noll L, Sander T, Shabbeer J, Smith C, Telatar M, Toji L, Vairavan A, Vance C, Weck KE, Wu AH, Yeo KT, Zeller M, and Kalman L., Characterization of 107 Genomic DNA Reference Materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1 J Mol Diagn12(6):835-46 2010 |
PubMed ID: 20889555 |
|
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 America12(6):835-46 2008 |
PubMed ID: 18523009 |
|
Mohler PJ, Le Scouarnec S, Denjoy I, Lowe JS, Guicheney P, Caron L, Driskell IM, Schott JJ, Norris K, Leenhardt A, Kim RB, Escande D, Roden DM, Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes Circulation115:432-41 2007 |
PubMed ID: 17242276 |
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