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Single cell transcriptome from aplastic anemia (AA) and healthy donors [Full-length RNA-seq]

ABSTRACT: Single cell transcriptome from aplastic anemia (AA) and healthy donors [Full-length RNA-seq]

PROVIDER: PRJNA607512 | ENA |

REPOSITORIES: ENA

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Single cell transcriptome from aplastic anemia (AA) and healthy donors [Full-length RNA-seq]

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Somatic mutations in lymphocytes in patients with immune-mediated aplastic anemia

Project description:In this study, we investigated somatic mutations of CD4+ and CD8+ T cells in patients with immune-mediated aplastic anemia (AA). To understand the role of mutations, we performed single-cell level analysis of 6 longitudinal samples of 2 AA patients carrying STAT3 or KRAS and other mutations in CD8+ T cells. The analysis was performed using V(D)J and 5' gene expression platform (10X Genomics). STAT3 mutated clone was clearly distinguishable from other CD8+ T cells and showed a cytotoxic phenotype, attenuated by successful immunosuppressive treatment. Our results suggest that somatic mutations in T cells can alter T cell phenotype warranting further investigation of their role in the pathogenesis of immune-mediated AA.

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Transcription profiling of human CD3+ T cells derived from bone marrow or peripheral blood of aplastic anemia patients

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