Mosaic Copy Number Variation in Human Neurons
McConnell MJ, Lindberg MR, Brennand KJ, Piper JC, Voet T, Cowing-Zitron C, Shumilina S, Lasken RS, Vermeesch JR, Hall IM, Gage FH. Mosaic Copy Number Variation in Human Neurons. Science 2013, 342: 632-637. PMID: 24179226, PMCID: PMC3975283, DOI: 10.1126/science.1243472.Peer-Reviewed Original ResearchMeSH KeywordsAneuploidyDNA Copy Number VariationsFrontal LobeHumansInduced Pluripotent Stem CellsMaleMosaicismNeural Stem CellsNeurogenesisNeuronsSequence Analysis, DNASequence DeletionSingle-Cell AnalysisConceptsCopy number variationsHiPSC-derived neuronsSingle-cell genomic approachesNumber variationsDNA copy number variationsSingle-cell sequencingHuman neuronsLarge copy number variationsStem cell linesNeural progenitor cellsNovo copy-number variationsPluripotent stem cell lineAneuploid neuronsGenomic approachesDe novo copy-number variationsSubchromosomal copy number variationsAberrant genomesFrontal cortex neuronsLarge deletionsProgenitor cellsCell linesSubset of neuronsEuploid neuronsDeletionMultiple alterationsGenome Sequencing of Mouse Induced Pluripotent Stem Cells Reveals Retroelement Stability and Infrequent DNA Rearrangement during Reprogramming
Quinlan AR, Boland MJ, Leibowitz ML, Shumilina S, Pehrson SM, Baldwin KK, Hall IM. Genome Sequencing of Mouse Induced Pluripotent Stem Cells Reveals Retroelement Stability and Infrequent DNA Rearrangement during Reprogramming. Cell Stem Cell 2011, 9: 366-373. PMID: 21982236, PMCID: PMC3975295, DOI: 10.1016/j.stem.2011.07.018.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBase SequenceCell LineageCellular ReprogrammingChimeraDNA Copy Number VariationsFalse Negative ReactionsGene RearrangementGene SilencingGenomeGenomic InstabilityHumansInduced Pluripotent Stem CellsMiceMolecular Sequence DataMutagenesis, InsertionalOrgan SpecificityRetroelementsSequence Analysis, DNAConceptsPluripotent stem cellsClasses of SVsPaired-end DNA sequencingStem cellsGenomic structural variationMouse Induced Pluripotent Stem CellsStructural variationsDNA copy number variationsEmbryonic stem cellsMost iPSC linesMouse iPSC linesIPSC linesInduced pluripotent stem cellsCopy number variationsGenome stabilityGene-disrupting mutationsRecent microarray studiesDNA rearrangementsGenome sequencingSpontaneous mutationsMicroarray studiesDeleterious genetic mutationsNumber variationsDNA sequencingComplex rearrangements