biostudies-literatureShirley MDNICHD NIH HHSNIDA NIH HHSNHGRI NIH HHSNIAAA NIH HHSNCI NIH HHSNIGMS NIH HHS1075-86https://www.ebi.ac.uk/biostudies/studies/S-EPMC3370055biostudies-literatureUnknown33(7)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 aHuman mutationChromosomal variation in lymphoblastoid cell lines.PMC3370055R01 DA013423U01 HG004438HHSN268200782096CU10 AA008401P01 CA089392U01 HG004446HHSN263200900026CU01 HG004422U01HG004438P30 HD024061T32 GM007814HD24061Pevsner JTang ZBaugher JDBeiswanger CMShirley MDGerry NBerlin DSStevens ELfalseChromosomal variation in lymphoblastoid cell lines.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 a2012-01-01T00:00:00Z2012 Jul2026-05-04T20:23:38.012Z2026-04-07T20:56:02.125ZS-EPMC33700552237485710.1002/humu.22062