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Cellular states, clonal dynamics, and evolution in Pearson syndrome revealed via single-cell multi-omics [PBMC_scRNA]
- Authors
- Lareau, Caleb A.Ludwig, Leif S.
- Description
Summary from GEO: "Large deletions in mitochondrial DNA (mtDNA) have been linked to a variety of clinical pathologies, including somatic emergence in congenital disorders such as Pearson Syndrome (MIM:557000), a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Here, we develop a multi-omics approach to quantify mtDNA deletion heteroplasmy and cell state...
- Subject
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Anemia, SideroblasticGene Expression ProfilingGenomicsHeteroplasmy/geneticsLeukocytes, MononuclearMyelodysplastic SyndromesSingle-Cell Analysis
- Access Rights
- Free to All
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Cellular states, clonal dynamics, and evolution in Pearson syndrome revealed via single-cell multi-omics [Celline_scATAC]
- Authors
- Lareau, Caleb A.Ludwig, Leif S.
- Description
Summary from GEO: "Large deletions in mitochondrial DNA (mtDNA) have been linked to a variety of clinical pathologies, including somatic emergence in congenital disorders such as Pearson Syndrome (MIM:557000), a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Here, we develop a multi-omics approach to quantify mtDNA deletion heteroplasmy and cell state...
- Subject
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Anemia, SideroblasticBinding sitesFibroblastsGenomicsHeteroplasmy/geneticsMyelodysplastic SyndromesSingle-Cell Analysis
- Access Rights
- Free to All
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Cellular states, clonal dynamics, and evolution in Pearson syndrome revealed via single-cell multi-omics [PBMC_scATAC]
- Authors
- Lareau, Caleb A.Ludwig, Leif S.
- Description
Summary from GEO: "Large deletions in mitochondrial DNA (mtDNA) have been linked to a variety of clinical pathologies, including somatic emergence in congenital disorders such as Pearson Syndrome (MIM:557000), a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Here, we develop a multi-omics approach to quantify mtDNA deletion heteroplasmy and cell state...
- Subject
-
Anemia, SideroblasticBinding sitesGenomicsHeteroplasmy/geneticsLeukocytes, MononuclearMyelodysplastic SyndromesSingle-Cell Analysis
- Access Rights
- Free to All