Lymphoblastoid cell lines in pharmacogenomic discovery and clinical translation

Pharmacogenomics. 2012 Jan;13(1):55-70. doi: 10.2217/pgs.11.121.


The ability to predict how an individual patient will respond to a particular treatment is the ambitious goal of personalized medicine. The genetic make up of an individual has been shown to play a role in drug response. For pharmacogenomic studies, human lymphoblastoid cell lines (LCLs) comprise a useful model system for identifying genetic variants associated with pharmacologic phenotypes. The availability of extensive genotype data for many panels of LCLs derived from individuals of diverse ancestry allows for the study of genetic variants contributing to interethnic and interindividual variation in susceptibility to drugs. Many genome-wide association studies for drug-induced phenotypes have been performed in LCLs, often incorporating gene-expression data. LCLs are also being used in follow-up studies to clinical findings to determine how an associated variant functions to affect phenotype. This review describes the most recent pharmacogenomic findings made in LCLs, including the translation of some findings to clinical cohorts.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Biomarkers, Pharmacological
  • Cell Line, Tumor
  • Drug Discovery / methods*
  • Genome-Wide Association Study
  • HapMap Project
  • Humans
  • Pharmacogenetics*
  • Polymorphism, Genetic*
  • Precision Medicine
  • Translational Medical Research / methods*


  • Biomarkers, Pharmacological