HD50CAU HUMAN VARIATION PANEL

Description: HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 50

Aliquot Size: 10 µg each

Sex: Males: 25 Females: 25

Brief Description: The Caucasian Panel of 50 is a selection of 25 male and 25 female samples from Caucasian 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.

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 immunology: 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
 
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
 
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
 
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
 
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
 
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 Biocomputing72:466-77 2003
PubMed ID: 12603050
 
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

Catalog IDSexAge at SamplingFamilyRelationshipGeneMutationAffected
NA17201Male25 YR700   No
       No
NA17242Female65 YR    No
NA17247Female65 YR  HLA-BHLA-B*5701 (Mono)No
NA17242Female65 YR    No
NA17247Female65 YR  HLA-BHLA-B*5701 (Mono)No
NA17233Female56 YR    No
       No
NA17218Female51 YR    No
       No
NA17224Female48 YR    No
NA17245Female48 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17224Female48 YR    No
NA17245Female48 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17246Female46 YR  CYP2C19, CYP2D6IVSDS3, G>A, +1 (Mono), TRP120ARG (Mono)No
      IVSDS3, G>A, +1 (Mono), TRP120ARG (Mono)No
NA17215Female44 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17217Female44 YR    No
NA17215Female44 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17217Female44 YR    No
NA17230Female37 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
      IVSDS3, G>A, +1 (Mono)No
NA17250Female35 YR    No
       No
NA17238Female34 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
      IVSDS3, G>A, +1 (Mono)No
NA17229Female33 YR    No
       No
NA17208Female32 YR    No
       No
NA17234Female31 YR    No
       No
NA17239Female27 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
      IVSDS3, G>A, +1 (Mono)No
NA17213Female26 YR    No
NA17236Female26 YR  CYP2D62850C>T (Mono), ARG296CYS AND SER486THR (Mono)No
NA17213Female26 YR    No
NA17236Female26 YR  CYP2D62850C>T (Mono), ARG296CYS AND SER486THR (Mono)No
NA17202Female23 YR    No
NA17204Female23 YR    No
NA17206Female23 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17209Female23 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17202Female23 YR    No
NA17204Female23 YR    No
NA17206Female23 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17209Female23 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17210Female22 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17216Female22 YR    No
NA17221Female22 YR  CYP2C9, CYP2D615489579A>C (Mono), DUP (Mono)No
NA17210Female22 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17216Female22 YR    No
NA17221Female22 YR  CYP2C9, CYP2D615489579A>C (Mono), DUP (Mono)No
NA17228Male75 YR    No
       No
NA17222Male68 YR    No
       No
NA17211Male65 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
      IVSDS3, G>A, +1 (Mono)No
NA17237Male63 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
      IVSDS3, G>A, +1 (Mono)No
NA17240Male60 YR  CYP2D6, HLA-BHLA-B*5701 (Mono), PRO34SER (Mono)No
      HLA-B*5701 (Mono), PRO34SER (Mono)No
NA17223Male57 YR    No
       No
NA17248Male55 YR  CYP2D6IVSDS3, G>A, +1 (Mono), PRO34SER (Mono)No
      IVSDS3, G>A, +1 (Mono), PRO34SER (Mono)No
NA17243Male52 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
      IVSDS3, G>A, +1 (Mono)No
NA17212Male51 YR    No
       No
NA17244Male44 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17249Male44 YR    No
NA17244Male44 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17249Male44 YR    No
NA17241Male40 YR    No
       No
NA17225Male37 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
      IVSDS3, G>A, +1 (Mono)No
NA17220Male36 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17226Male36 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17220Male36 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17226Male36 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17214Male33 YR    No
NA17219Male33 YR    No
NA17214Male33 YR    No
NA17219Male33 YR    No
NA17235Male31 YR  CYP2D6DEL (Mono)No
      DEL (Mono)No
NA17207Male28 YR    No
NA17231Male28 YR    No
NA17207Male28 YR    No
NA17231Male28 YR    No
NA17203Male27 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17232Male27 YR    No
NA17203Male27 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17232Male27 YR    No
NA17205Male26 YR    No
       No
NA17227Male18 YR  CYP2D62613_2615delAGA (Mono)No
      2613_2615delAGA (Mono)No