2016
Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies
Brauer PM, Pessach IM, Clarke E, Rowe JH, Ott de Bruin L, Lee YN, Dominguez-Brauer C, Comeau AM, Awong G, Felgentreff K, Zhang YH, Bredemeyer A, Al-Herz W, Du L, Ververs F, Kennedy M, Giliani S, Keller G, Sleckman BP, Schatz DG, Bushman FD, Notarangelo LD, Zúñiga-Pflücker JC. Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies. Blood 2016, 128: 783-793. PMID: 27301863, PMCID: PMC4982452, DOI: 10.1182/blood-2015-10-676304.Peer-Reviewed Original ResearchConceptsInduced pluripotent stem cellsT cell developmentPluripotent stem cellsT cell receptorStem cellsOmenn syndrome patientsSingle-strand DNA breaksHuman induced pluripotent stem cellsControl iPSCsDeep-sequencing analysisT lineage cellsHuman T-cell developmentT cell progenitorsIPSC-derived cellsJoining genesImpaired T-cell differentiationDNA breaksSame geneN-terminalImmune system developmentLocus rearrangementT cell differentiationPatient cellsRecombination activityGenetic defects
2003
Defective DNA Repair and Increased Genomic Instability in Artemis-deficient Murine Cells
Rooney S, Alt FW, Lombard D, Whitlow S, Eckersdorff M, Fleming J, Fugmann S, Ferguson DO, Schatz DG, Sekiguchi J. Defective DNA Repair and Increased Genomic Instability in Artemis-deficient Murine Cells. Journal Of Experimental Medicine 2003, 197: 553-565. PMID: 12615897, PMCID: PMC2193825, DOI: 10.1084/jem.20021891.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAntineoplastic AgentsBleomycinCell LineChromosome AberrationsDNADNA DamageDNA RepairDNA-Binding ProteinsEmbryo, MammalianEndonucleasesGene TargetingGenomeHomeodomain ProteinsHumansIn Situ Hybridization, FluorescenceMiceMutationNuclear ProteinsRadiation, IonizingRecombination, GeneticSequence Analysis, DNASevere Combined ImmunodeficiencyStem CellsTelomere