The HD50CAU set of Samples

Overview
Publications

Brief Description: The White Panel of 50 is a selection of 25 male and 25 female samples from White Panel of 100. The individual cell cultures of this panel are labeled GM17201 to GM17250 and the DNA samples are labeled NA17201 to NA17250.

Some samples in the Human Variation Collection have been assigned a second catalogue number to indicate inclusion in the Human Variation Collection in addition to their original catalogue number. A complete list of the alternative sample numbers can be downloaded as an Excel file.

Burgueño-Rodríguez G, Méndez Y, Olano N, Dabezies A, Bertoni B, Souto J, Castillo L, da Luz J, Soler AM, Ancestry and TPMT-VNTR Polymorphism: Relationship with Hematological Toxicity in Uruguayan Patients with Acute Lymphoblastic Leukemia Frontiers in pharmacology11:594262 2020

PubMed ID: 33424606

Smit AK, Collazo-Roman M, Vadaparampil ST, Valavanis S, Del Rio J, Soto B, Flores I, Dutil J, Kanetsky PA, MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population Scientific reports10:7303 2019

PubMed ID: 32350296

Sapkota BR, Hijikata M, Matsushita I, Tanaka G, Ieki R, Kobayashi N, Toyota E, Nagai H, Kurashima A, Tokunaga K, Keicho N, Association of SLC11A1 (NRAMP1) polymorphisms with pulmonary Mycobacterium avium complex infection Human immunology10:7303 2011

PubMed ID: 22387151

Cheng X, Dib-Hajj SD, Tyrrell L, Wright DA, Fischer TZ, Waxman SG, Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel Na V 17 produce distinct pain disorders Molecular pain6:24 2010

PubMed ID: 20429905

Kelley JL, Swanson WJ, Dietary change and adaptive evolution of enamelin in humans and among primates Genetics178:1595-603 2008

PubMed ID: 18245370

Hawkins A, Meyers A, Bleecker R, Pack I, Identification Of Coding Polymorphisms In Human Circadian Rhythm Genes Per1, Per2, Per3, Clock, Arntl, Cry1, Cry2 And Timeless In A Multi-ethnic Screening Panel DNA Seq10:1 2007

PubMed ID: 17852344

Kim JW, Simmer JP, Hart TC, Hart PS, Ramaswami MD, Bartlett JD, Hu JC, MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta Journal of medical genetics42:271-5 2005

PubMed ID: 15744043

Halldórsson BV, Bafna V, Lippert R, Schwartz R, De La Vega FM, Clark AG, Istrail S, Optimal haplotype block-free selection of tagging SNPs for genome-wide association studies Genome research14:1633-40 2004

PubMed ID: 15289481

Lerman C, Wileyto EP, Patterson F, Rukstalis M, Audrain-McGovern J, Restine S, Shields PG, Kaufmann V, Redden D, Benowitz N, Berrettini WH, The functional mu opioid receptor (OPRM1) Asn40Asp variant predicts short-term response to nicotine replacement therapy in a clinical trial The pharmacogenomics journal4:184-92 2004

PubMed ID: 15007373

Stenzel A, Lu T, Koch WA, Hampe J, Guenther SM, De La Vega FM, Krawczak M, Schreiber S, Patterns of linkage disequilibrium in the MHC region on human chromosome 6p Human genetics114:377-85 2004

PubMed ID: 14740295

Avi-Itzhak HI, Su X, De La Vega FM, Selection of minimum subsets of single nucleotide polymorphisms to capture haplotype block diversity Pacific Symposium on Biocomputing Pacific Symposium on Biocomputing114:466-77 2003

PubMed ID: 12603050

Noonan JP, Li J, Nguyen L, Caoile C, Dickson M, Grimwood J, Schmutz J, Feldman MW, Myers RM, Extensive linkage disequilibrium, a common 167-kilobase deletion, and evidence of balancing selection in the human protocadherin alpha cluster American journal of human genetics72:621-35 2003

PubMed ID: 12577201

Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L, GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet71(4):863-76 2002

PubMed ID: 12215968