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 Repository samples with characterized mutations or haplotypes of interest are shown below.

Gene PharmGKB NCBI Entrez Gene Available Samples Characterized Variants
in Catalog Samples
CYP2C19 View View View View
CYP2C9 View View View View
CYP2D6 View View View View
CYP3A5 View View View View
F5 View View View View
MTHFR View View View View
UGT1A1 View View View View

Many repository samples with pharmacogenetic variants have been verified by independent sequencing. A list of the sequencing-verified samples is available here.

Visit the SNP Search page for additional information on all SNPs of interest, indexed by dbSNP rsID.

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 links below to view samples with multiply confirmed mutations in pharmacogenetically relevant genes.