Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA177961 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Somatic copy-number mosaicism in human skin revealed by induced pluripotent stem cells (sequencing)
| PRJNA178020 | ENA
Project description:Reprogramming human somatic cells into induced pluripotent stem cells (iPSC) has been suspected of causing de novo copy number variations (CNVs). To explore this issue, we performed a whole-genome and transcriptome analysis of 20 human iPSC lines derived from primary skin fibroblasts of 7 individuals using next-generation sequencing. We find that, on average, an iPSC line manifests two CNVs not apparent in the fibroblasts from which the iPSC was derived. Using qPCR, PCR, and digital droplet PCR (ddPCR) to amplify across the CNVs' breakpoints, we show that at least 50% of those CNVs are present as low frequency somatic genomic variants in parental fibroblasts and are manifested in iPSC colonies due to their clonal origin. Hence, reprogramming does not necessarily lead to de novo CNVs in iPSC, since most of line-manifested CNVs reflect somatic mosaicism in the human skin. Moreover, our findings demonstrate that clonal expansion, and iPSC lines in particular, can be used as a discovery tool to reliably detect low frequency CNVs in the tissue of origin. Overall, we estimate that approximately 30% of the fibroblast cells have somatic CNVs, suggesting widespread somatic mosaicism in the human body. Our study paves the way to understanding the fundamental question of the extent to which cells of the human body normally acquire structural alterations in their DNA post-zygotically. We have generated and characterized hiPSC lines derived from skin fibroblasts collected from seven members of two families, which were competent to be differentiated into neuronal progenitors and neurons
2012-10-31 | E-GEOD-41716 | biostudies-arrayexpress
Project description:Reprogramming human somatic cells into induced pluripotent stem cells (iPSC) has been suspected of causing de novo copy number variations (CNVs). To explore this issue, we performed a whole-genome and transcriptome analysis of 20 human iPSC lines derived from primary skin fibroblasts of 7 individuals using next-generation sequencing. We find that, on average, an iPSC line manifests two CNVs not apparent in the fibroblasts from which the iPSC was derived. Using qPCR, PCR, and digital droplet PCR (ddPCR) to amplify across the CNVs' breakpoints, we show that at least 50% of those CNVs are present as low frequency somatic genomic variants in parental fibroblasts and are manifested in iPSC colonies due to their clonal origin. Hence, reprogramming does not necessarily lead to de novo CNVs in iPSC, since most of line-manifested CNVs reflect somatic mosaicism in the human skin. Moreover, our findings demonstrate that clonal expansion, and iPSC lines in particular, can be used as a discovery tool to reliably detect low frequency CNVs in the tissue of origin. Overall, we estimate that approximately 30% of the fibroblast cells have somatic CNVs, suggesting widespread somatic mosaicism in the human body. Our study paves the way to understanding the fundamental question of the extent to which cells of the human body normally acquire structural alterations in their DNA post-zygotically.
2012-10-31 | GSE41716 | GEO
Project description:ZNF804A transcriptome networks in differentiating human neurons derived from induced pluripotent stem cells
2025-01-24 | E-GEOD-54112 | ExpressionAtlas
Project description:Somatic mosaicism for copy number variation in differentiated human tissues
| PRJNA103443 | ENA
Project description:Non-clonal mosaicism in human somatic and embryonic stem cells revealed by single-cell array-based copy-number variation analysis
| PRJNA221240 | ENA
Project description:RNA-seq of WTAP knockdown human pluripotent stem cells during the exit from pluripotency induced by Activin/Nodal inhibition
2025-01-23 | E-MTAB-5230 | ExpressionAtlas
Project description:The Purpose of this series of experiments is to identify copy number variations, duplications, and deletions in human induced pluripotent stem (hiPSC) cell lines. Genomic DNA of different human induced pluripotent stem cell lines are extracted and hybridized to NimbleGen CGH microarray, using genomic DNA of hESC H1 or H9 as common reference. Difference between different stem cell lines will be revealed.
2012-01-07 | E-GEOD-33484 | biostudies-arrayexpress
Project description:Transcriptional Profiling of human pluripotent stem cells and and derived tissues
2025-01-23 | E-MTAB-3158 | ExpressionAtlas
Project description:RNA-Seq of GNRH1 neurons differentiated from human pluripotent stem cells
2025-01-23 | E-MTAB-7938 | ExpressionAtlas