We have generated iPSCs from monosomy X (Turner Syndrome), trisomy 8 (Warkany Syndrome 2), trisomy 13 (Patau Syndrome) and partial trisomy 11;22 (Emanuel Syndrome), using either skin fibroblasts from affected individuals or amniocytes from antenatal diagnostic tests. These cell lines stably maintain the karyotype of the donors and behave like embryonic stem cells (ESCs) in all tested assays. Turner Syndrome iPSCs were used for further studies including global gene expression analysis and tissue-specific directed differentiation. Multiple clones displayed lower levels of the pseudoautosomal genes ASMTL and PPP2R3B than the controls. Moreover, they could be transformed into neural-like, hepatocyte-like and heart-like cells but displayed insufficient up-regulation of the pseudoautosomal placental gene CSF2RA during embryoid body (EB) formation. These data support that abnormal organogenesis and early lethality in Turner Syndrome are not caused by a tissue-specific differentiation blockade but rather involves other abnormalities including impaired placentation.
Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes.
Cell line
View SamplesWilsons disease (WD) is a relevant human genetic disease caused by mutations in the ATP7B gene, whose product is a liver enzyme responsible for copper export into bile and blood. Interestingly, the spectrum of ATP7B mutations is vast and can influence clinical presentation (a variable spectrum of hepatic and neural manifestations), though the reason for this is not well understood. Here we describe the successful generation of iPSCs from a Chinese patient with Wilsons disease that bears the R778L Chinese hotspot mutation in the ATP7B gene.
Rescue of ATP7B function in hepatocyte-like cells from Wilson's disease induced pluripotent stem cells using gene therapy or the chaperone drug curcumin.
Specimen part
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Vitamin C enhances the generation of mouse and human induced pluripotent stem cells.
Specimen part, Treatment, Time
View SamplesFBS and BMP influence the somatic reprogramming induced by Oct4/Sox2/Klf4/c-Myc similarly. Bone morphogenetic proteins (BMPs) are abundant in serum and activate Smad1/5/8 to regulated target genes.
H3K9 methylation is a barrier during somatic cell reprogramming into iPSCs.
Cell line
View SamplesIn order to understand the global gene expression changes resulting from the addition of vitamin C (Vc) to SKO (sox2, klf4 and oct4)-transduced mouse embryonic fibroblasts (MEFs), we used microarray to compare the gene expression profile at different time points with or without Vc.
Vitamin C enhances the generation of mouse and human induced pluripotent stem cells.
Specimen part, Treatment, Time
View SamplesOverexpression HDAC7 can enhance iPS efficiency in SKO by supressing MEF2 factors
No associated publication
Specimen part, Time
View SamplesTreatment with MicroRNA cluster B and C increase the iPS efficiency
MicroRNA cluster 302-367 enhances somatic cell reprogramming by accelerating a mesenchymal-to-epithelial transition.
Specimen part, Treatment, Time
View SamplesThis SuperSeries is composed of the SubSeries listed below.
A mesenchymal-to-epithelial transition initiates and is required for the nuclear reprogramming of mouse fibroblasts.
Cell line
View SamplesWe present a robust serum-free system for the rapid and efficient reprogramming of mouse somatic cells by Oct4, Sox2 and Klf4. The elimination of fetal bovine serum and oncogene c-Myc allowed reprogramming cells to be detected as early as Day 2 and reached greater than 10% of the population at Day 7 post retroviral transduction. The resulting iPS colonies were isolated with high efficiency to establish pluripotent cell lines. Based on this method, we further developed iPS-SF1 as a dedicated reprogramming medium for chemical screening and mechanistic investigations.
Towards an optimized culture medium for the generation of mouse induced pluripotent stem cells.
Specimen part
View SamplesTreatment with vitamin C (Vc) on MaF pre-induced pluripotent stem cells (pre-iPSCs) induced a rapid conversion into full-iPSCs within a few passages. We used microarrays to identify changes induced by Vc in the MaF pre-iPSC clone.
Vitamin C enhances the generation of mouse and human induced pluripotent stem cells.
Specimen part, Treatment, Time
View Samples