Integrity of genome-wide genotype data from low passage lymphoblastoid cell lines
Nina S. McCarthy,
Spencer M. Allan,
David Chandler,
Assen Jablensky,
Bharti Morar
Affiliations
Nina S. McCarthy
Centre for the Genetic Origins of Health and Disease, The University of Western Australia, Perth, Australia
Spencer M. Allan
Centre for the Genetic Origins of Health and Disease, The University of Western Australia, Perth, Australia
David Chandler
Centre for Clinical Research in Neuropsychiatry, School of Psychiatry and Clinical Neurosciences, The University of Western Australia, Perth, Australia
Assen Jablensky
Centre for Clinical Research in Neuropsychiatry, School of Psychiatry and Clinical Neurosciences, The University of Western Australia, Perth, Australia
Bharti Morar
Centre for Clinical Research in Neuropsychiatry, School of Psychiatry and Clinical Neurosciences, The University of Western Australia, Perth, Australia
We compared genotype data from the HumanExomeCore Array in peripheral blood mononuclear cells and low passage lymphoblastoid cell lines from the same 24 individuals to test for genotypic errors caused by the Epstein–Barr Virus transformation process. Genotype concordance across the 24 comparisons was 99.57% for unfiltered genotype data, and 99.63% following standard genotype quality control filters. Mendelian error rates and levels of heterozygosity were not significantly different between lymphoblastoid cell lines and their parent peripheral blood mononuclear cells. These results show that at low passage numbers, genotype discrepancies are minimal even before stringent quality control, and extend current evidence qualifying the use of low-passage lymphoblastoid cell lines as a reliable DNA source for genotype analysis.
