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Modeling Fanconi Anemia pathogenesis and therapeutics using integration-free patient iPSCs

ABSTRACT: This SuperSeries is composed of the SubSeries listed below.

ORGANISM(S): Homo sapiens

PROVIDER: GSE57828 | GEO | 2014/05/21

SECONDARY ACCESSION(S): PRJNA248194

REPOSITORIES: GEO

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Modeling Fanconi Anemia pathogenesis and therapeutics using integration-free patient iPSCs

Project description:To elucidate the transcriptional and epigenetic alterations underlying the neurogenic defects of FA-NSCs, we conducted gene expression microarray analysis and global DNA methylation profiling. The gene expression pattern of gene-corrected NSCs (C-FA-NSCs) resembled that of control-NSCs but clustered distantly from FA-NSCs (Fig. 6F and Table S1). Hierarchical clustering based on DNA methylation levels in the promoter region (+/-1.5kb from TSS) of genes whose expression levels were rescued in C-FA-NSCs, placed C-FA-NSCs closer to control-NSCs and away from FA-NSCs (Fig. 6G), although this pattern was not seen at the whole genome level (Fig. S4C). This suggests that FANCA gene correction leads to specific methylation changes in a subset of promoters. Examination of the methylomes of NSCs derived from Fanconi Anemia iPSCs before and after gene correction by targeted bisulfite sequencing with padlock probes

2014-05-15 | E-GEOD-57685 | biostudies-arrayexpress

Modeling Fanconi Anemia pathogenesis and therapeutics using integration-free patient iPSCs

Project description:This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

2014-05-21 | E-GEOD-57828 | biostudies-arrayexpress

Modeling Fanconi Anemia pathogenesis and therapeutics using integration-free patient iPSCs

2014-05-15 | GSE57685 | GEO

Modeling Fanconi Anemia pathogenesis and therapeutics using integration-free patient iPSCs [ChIP-seq]

Project description:We compared the epigenetic status of the mutant and disease-free iPSCs at the whole genome level. Whole epigenome profiling based on trimethylated H3K4 (H3K4me3) showed concordant epigenetic remodeling in the two corrected clones when compared with two mutant iPSC clones. Examination of the trimethylated H3K4 histone modification in Fanconi anemia patient iPSCs before and after gene correction

2014-05-21 | E-GEOD-57827 | biostudies-arrayexpress

Modeling Fanconi Anemia pathogenesis and therapeutics using integration-free patient iPSCs [RNA-seq]

Project description:We compared the epigenetic status of the mutant and disease-free iPSCs at the whole genome level. Whole epigenome profiling based on trimethylated H3K4 (H3K4me3) showed concordant epigenetic remodeling in the two corrected clones when compared with two mutant iPSC clones. Examination of genome-wide gene expression in Fanconi anemia patient iPSCs before and after gene correction

2014-05-21 | E-GEOD-57826 | biostudies-arrayexpress

Modeling Fanconi Anemia pathogenesis and therapeutics using integration-free patient iPSCs [ChIP-seq]

2014-05-21 | GSE57827 | GEO

Modeling Fanconi Anemia pathogenesis and therapeutics using integration-free patient iPSCs [RNA-seq]

2014-05-21 | GSE57826 | GEO

Modelling Fanconi anemia pathogenesis and therapeutics using integration-free patient-derived iPSCs.

Project description:Fanconi anaemia (FA) is a recessive disorder characterized by genomic instability, congenital abnormalities, cancer predisposition and bone marrow (BM) failure. However, the pathogenesis of FA is not fully understood partly due to the limitations of current disease models. Here, we derive integration free-induced pluripotent stem cells (iPSCs) from an FA patient without genetic complementation and report in situ gene correction in FA-iPSCs as well as the generation of isogenic FANCA-deficient human embryonic stem cell (ESC) lines. FA cellular phenotypes are recapitulated in iPSCs/ESCs and their adult stem/progenitor cell derivatives. By using isogenic pathogenic mutation-free controls as well as cellular and genomic tools, our model serves to facilitate the discovery of novel disease features. We validate our model as a drug-screening platform by identifying several compounds that improve hematopoietic differentiation of FA-iPSCs. These compounds are also able to rescue the hematopoietic phenotype of FA patient BM cells.

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Modeling Fanconi Anemia pathogenesis and therapeutics using integration-free patient iPSCs

Project description:Modeling Fanconi Anemia pathogenesis and therapeutics using integration-free patient iPSCs

| PRJNA248194 | ENA

Modeling the Pathogenesis of Charcot-Marie-Tooth Disease Type 1A Using Patient-Specific iPSCs.

Project description:Charcot-Marie-Tooth disease type 1A (CMT1A), one of the most frequent inherited peripheral neuropathies, is associated with PMP22 gene duplication. Previous studies of CMT1A mainly relied on rodent models, and it is not yet clear how PMP22 overexpression leads to the phenotype in patients. Here, we generated the human induced pluripotent stem cell (hiPSC) lines from two CMT1A patients as an in vitro cell model. We found that, unlike the normal control cells, CMT1A hiPSCs rarely generated Schwann cells through neural crest stem cells (NCSCs). Instead, CMT1A NCSCs produced numerous endoneurial fibroblast-like cells in the Schwann cell differentiation system, and similar results were obtained in a PMP22-overexpressing iPSC model. Therefore, despite the demyelination-remyelination and/or dysmyelination theory for CMT1A pathogenesis, developmental disabilities of Schwann cells may be considered as an underlying cause of CMT1A. Our results may have important implications for the uncovering of the underlying mechanism and the development of a promising therapeutic strategy for CMT1A neuropathy.

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