2013
Investigation of Rett syndrome using pluripotent stem cells
Dajani R, Koo S, Sullivan GJ, Park I. Investigation of Rett syndrome using pluripotent stem cells. Journal Of Cellular Biochemistry 2013, 114: 2446-2453. PMID: 23744605, PMCID: PMC3773984, DOI: 10.1002/jcb.24597.Peer-Reviewed Original ResearchConceptsPluripotent stem cellsStem cellsRett syndromeFunction of MeCP2Pathophysiology of RTTEmbryonic stem cellsEpigenetic instabilityTranscription factorsDe novo mutationsRTT phenotypeCurrent iPSCHuman diseasesMeCP2Novo mutationsIPSCsCellsNeurodevelopmental disordersOverexpressionMutationsPhenotypeMurine modelRecapitulationMaintenanceIdentificationPluripotent 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 expressionModelling human disease with pluripotent stem cells.
Siller R, Greenhough S, Park IH, Sullivan GJ. Modelling human disease with pluripotent stem cells. Current Gene Therapy 2013, 13: 99-110. PMID: 23444871, PMCID: PMC3785403, DOI: 10.2174/1566523211313020004.Peer-Reviewed Original ResearchConceptsPluripotent stem cellsStem cellsAffected cell typesCellular reprogrammingEndodermal lineagesPluripotent cellsHuman diseasesCell typesGenetic diseasesDisease phenotypeDisease mechanismsDisease modellingTissue of interestPatient tissuesCellsLimitless supplyReprogrammingLineagesRecent progressProgenyPhenotypeTissueTherapeutic interventionsHigh levelsCell technology
2010
Induced pluripotent stem cells: A novel frontier in the study of human primary immunodeficiencies
Pessach IM, Ordovas-Montanes J, Zhang SY, Casanova JL, Giliani S, Gennery AR, Al-Herz W, Manos PD, Schlaeger TM, Park IH, Rucci F, Agarwal S, Mostoslavsky G, Daley GQ, Notarangelo LD. Induced pluripotent stem cells: A novel frontier in the study of human primary immunodeficiencies. Journal Of Allergy And Clinical Immunology 2010, 127: 1400-1407.e4. PMID: 21185069, PMCID: PMC3081993, DOI: 10.1016/j.jaci.2010.11.008.Peer-Reviewed Original ResearchMeSH KeywordsAdaptive ImmunityCell DedifferentiationCell DifferentiationCell LineCell TransdifferentiationDNAGene ExpressionGenes, mycHumansImmunity, InnateImmunologic Deficiency SyndromesInduced Pluripotent Stem CellsKaryotypingKruppel-Like Factor 4Kruppel-Like Transcription FactorsOctamer Transcription Factor-3Proto-Oncogene MasSOXB1 Transcription FactorsConceptsInduced pluripotent stem cellsKrueppel-like factor 4Pluripotent stem cellsStem cellsIPSC linesHuman embryonic stem cellsEmbryonic stem cellsExpression of genesTranscription factor 4Patient-derived iPSC linesFactor 4Region Y-box 2Patient dermal fibroblastsTranscription factorsSomatic cellsDermal fibroblastsHuman primary immunodeficienciesEmbryoid bodiesExogenous expressionHuman diseasesGene correctionCell typesProto-oncogeneEmbryonic layersPolycistronic lentiviral vector