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Utility of lymphoblastoid cell lines

Transformation of peripheral B lymphocytes by Epstein‐Barr virus (EBV) is the method of choice for generating lymphoblastoid cell lines (LCLs). This method has been in use for the last two decades with a high success rate. With a somatic mutation rate of 0.3% and ease of cell maintenance, lymphoblastoid cells are still the preferred choice of storage for patients' genetic material. Studies have demonstrated a good correlation between using DNA from patient‐derived LCLs and conventional sources for the purpose of genetic screening. RNAs from LCLs have also been utilized for detecting splice mutations in various diseases. There is increasing evidence that gene expression in LCLs encompasses a wide range of metabolic pathways that are specific to individuals where the cells originated, making LCLs suitable for molecular and functional studies. There have been efforts to produce a proteome map and database of lymphoblastoid cells by characterizing protein spots on a two‐dimensional electrophoresis map. Proteomes from LCLs have been used in the elucidation of protein expression profile analysis of cellular response to DNA double‐strand break, an approach now recognized as differential proteome analysis. Despite some inherent limitations, the utility of LCLs is increasingly recognized and with appropriate infrastructure and financial support, LCLs will be an important resource for genetic and functional research of neurological disorders. © 2009 Wiley‐Liss, Inc.