2013
Pluripotent Stem Cell Models of Shwachman-Diamond Syndrome Reveal a Common Mechanism for Pancreatic and Hematopoietic Dysfunction
Tulpule A, Kelley JM, Lensch MW, McPherson J, Park IH, Hartung O, Nakamura T, Schlaeger TM, Shimamura A, Daley GQ. Pluripotent Stem Cell Models of Shwachman-Diamond Syndrome Reveal a Common Mechanism for Pancreatic and Hematopoietic Dysfunction. Cell Stem Cell 2013, 12: 727-736. PMID: 23602541, PMCID: PMC3755012, DOI: 10.1016/j.stem.2013.04.002.Peer-Reviewed Original ResearchConceptsHuman embryonic stem cellsPluripotent stem cell modelsStem cell modelShwachman-Diamond syndromeHuman pluripotent stem cell modelSBDS protein expressionEmbryonic stem cellsDiamond syndrome (SBDS) geneStem cell linesHematopoietic dysfunctionPluripotent stem cell lineHematopoietic phenotypeInduced pluripotent stem cell lineHematopoietic differentiationCell modelTransgene rescueShwachman-BodianSyndrome geneHuman diseasesElevated protease levelsNovel insightsMechanistic linkStem cellsEnhanced apoptosisProtein expression
2012
Overcoming reprogramming resistance of Fanconi anemia cells
Müller LU, Milsom MD, Harris CE, Vyas R, Brumme KM, Parmar K, Moreau LA, Schambach A, Park IH, London WB, Strait K, Schlaeger T, DeVine AL, Grassman E, D'Andrea A, Daley GQ, Williams DA. Overcoming reprogramming resistance of Fanconi anemia cells. Blood 2012, 119: 5449-5457. PMID: 22371882, PMCID: PMC3369681, DOI: 10.1182/blood-2012-02-408674.Peer-Reviewed Original ResearchConceptsFA cellsFA pathwayFA DNA repair pathwayFanconi anemiaDNA double-strand breaksFanconi anemia cellsStem cellsDNA repair pathwaysDouble-strand breaksDisease-specific iPSCsPluripotent stem cellsFuture translational applicationsGenomic integrityHuman primary cellsHematopoietic stem cellsHematopoietic differentiationChromosomal instabilityMolecular characterizationGene correctionTransgenic expressionDNA damageGenetic correctionHematopoietic cellsPrimary cellsPathway
2011
Gene-Correction Rescues Reprogramming of Fanconi Anemia Fibroblasts and Enables Hematopoietic Differentiation of FA Induced Pluripotent Stem Cells in Vitro and In Vivo
Mueller L, Milsom M, Harris C, Vyas R, Brumme K, Parmar K, Schambach A, Grassman E, Park I, Wendy L, Strait K, Schlaeger T, Devine A, D'Andrea A, Daley G, Williams D. Gene-Correction Rescues Reprogramming of Fanconi Anemia Fibroblasts and Enables Hematopoietic Differentiation of FA Induced Pluripotent Stem Cells in Vitro and In Vivo. Blood 2011, 118: 672. DOI: 10.1182/blood.v118.21.672.672.Peer-Reviewed Original ResearchFA cellsFA pathwayFanconi anemiaPluripotent stem cellsHematopoietic differentiationGenomic instabilityStem cellsIPSC linesDouble-strand DNA breaksHematopoietic cellsFANCD2 foci formationPatient iPSC linesHematopoietic differentiation potentialFanconi anemia fibroblastsTail-tip fibroblastsInduced pluripotent stem cellsDefective DNA repairGreen fluorescent proteinFatal bone marrow failureGenomic integritySignificant chromosomal imbalancesHematopoietic stem cellsComparative genomic hybridizationComplementation groupsDNA repair