A Resource for Pharmacogenetics

Coriell offers resources for pharmacogenetic research, including lymphoblastoid cell lines and DNA samples, which are available through the NIGMS Human Genetics Cell Repository (HGCR). The genotypes for these samples have been obtained from dbSNPPharmGKBInternational HapMap Project, and the SNP500 Cancer Project as well as publications and independent researchers.

The pharmacogenetic genes of interest for which there are determined mutations are shown below. Please select:

    • Gene Name to show variants with samples in the catalog
    • Gene mutation to show samples in catalog with that mutation
    • SNP Finder to indicate samples in the catalog with data on that SNP
    • PharmGKB Link to link to extensive information about this gene
    • Entrez Gene Link to connect to NCBI Page

    Visit the SNP Search page for additional information on SNPS of interest.

    A list of repository samples with pharmacogenetic variants verified by sequencing is available in this spreadsheet.   

    Gene PharmGKB Link Entrez Gene Link
    ABCB1 View View
    ADRB1 View View
    ADRB2 View View
    COMT View View
    CYP2A6 View View
    CYP2C19 View View
    CYP2C9 View View
    CYP2D6 View View
    CYP3A4 View View
    CYP3A5 View View
    DPYD View View
    DRD2 View View
    F5 View View
    HMGCR View View
    MTHFR View View
    SLC19A1 View View
    SLCO1B1 View View
    SULT1A1 View View
    TPMT View View
    UGT1A1 View View
    VDR View View
    VKORC1 View View

    Genetic Testing Reference Material (GeT-RM)

    The ongoing collaboration between the NIGMS Human Genetic Cell Repository and the Centers for Disease Control and Prevention's (CDC) GeT-RM program has resulted in the availability of a number of pharmacogenetic reference materials containing variants in many genes implicated in drug metabolism and response. These variants have been confirmed by multiple laboratories using different testing platforms. Please click here to access the NIGMS GeT-RM page. Click on the Pharmacogenomics links to view these samples with multiply confirmed mutations.

    The list includes 137 ethnically diverse cell lines which were extensively characterized for 28 commonly tested pharmacogenetics genes. The Pharmacogenomics Research Network  page describes the molecular characterization published by Pratt VM et al. (J Mol Diag. 2016).


    Samples Sequenced using the ThermoFisher Ion AmpliSeq™ Pharmacogenomics Panel

    Twenty-four popular, broadly consented samples were selected for genotyping utilizing the Ion AmpliSeq panel from ThermoFisher. “Hotspots” including 136 SNPs, indels and copy number variations (CNV) in the drug metabolism enzyme (DME) genes were analyzed using this next-generation sequencing (NGS) panel. Several of these samples have been selected and characterized as reference materials by the Genome in a Bottle Consortium and the  National Instituteof Standards and Technology (NIST). Some include Centre d'Etude du Polymorphism Humain (CEPH) UTAH and Personal Genome Project  (PGP) families. To view the full list of samples, variants, and SNPS, detected by the sequencing panel, please click here.


    Description Sample ID

    APPARENTLY HEALTHY INDIVIDUALS  (NON-OBESE CONTROL)

    GM14476

    CEPH/UTAH PEDIGREE 1347

    GM10859

    CEPH/UTAH PEDIGREE 1420

    GM10838

    CEPH/UTAH PEDIGREE 1463

    GM12877

    GM12878

    GM12887

    GM12891

    CYSTIC FIBROSIS

    GM13591

    FRAGILE X MENTAL RETARDATION SYNDROME

    GM03200

    HUMAN VARIATION PANEL - AFRICAN AMERICAN

    GM17102

    GM17103

    GM17104

    GM17105

    GM17107

    GM17109

    GM17113

    GM17114

    GM17116

    PERSONAL GENOME PROJECT

    GM24143

    GM24149

    GM24385

    GM24631

    GM24694

    GM24695