Chromosomal variation in lymphoblastoid cell lines

Matthew D. Shirley, Joseph D. Baugher, Eric L. Stevens, Zhenya Tang, Norman Gerry, Christine M. Beiswanger, Dorit S. Berlin, Jonathan Pevsner

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


Tens of thousands of lymphoblastoid cell lines (LCLs) have been established by the research community, providing nearly unlimited source material from samples of interest. LCLs are used to address questions in population genomics, mechanisms of disease, and pharmacogenomics. Thus, it is of fundamental importance to define the extent of chromosomal variation in LCLs. We measured variation in genotype and copy number in multiple LCLs derived from peripheral blood mononuclear cells (PBMCs) of single individuals as well as two comparison groups: (1) three types of differentiated cell lines (DCLs) and (2) triplicate HapMap samples. We then validated and extended our findings using data from a large study consisting of samples from blood or LCLs. We observed high concordances between genotypes and copy number estimates within all sample groups. While the genotypes of LCLs tended to faithfully reflect the genotypes of PBMCs, 13.7% (4 of 29) of immortalized cell lines harbored mosaic regions greater than 20 megabases, which were not present in PBMCs, DCLs, or HapMap replicate samples. We created a list of putative LCL-specific changes (affecting regions such as immunoglobulin loci) that is available as a community resource.

Original languageEnglish (US)
Pages (from-to)1075-1086
Number of pages12
JournalHuman mutation
Issue number7
StatePublished - Jul 2012
Externally publishedYes


  • Copy number variation
  • Genotyping
  • Lymphoblastoid cell lines
  • Microarrays
  • SNP

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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