Smart-seq3 and Smart-seq3xpress single-cell RNA sequencing of bone marrow cells from MDS-RS patients
Documentation files
Documentation files
Citation and access
Citation and access
Data access level:
Creator/Principal investigator(s):
Research principal:
Data contains personal data:
Yes
Type of personal data:
Genetic and biological data of patients
Code key exists:
Yes
Sensitive personal data:
Yes
Citation:
Language:
Method and outcome
Method and outcome
Unit of analysis:
Population:
Patients with Myelodysplastic neoplasms with ring sideroblasts (MDS-RS)
Study design:
- Preclinical study
Sampling procedure:
Description of sampling:
Bone marrow (BM) and/or peripheral blood (PB) samples were collected from 36 MDS-RS and 3 MDS non-RS patients evaluated at Karolinska University Hospital, Huddinge, Sweden. Diagnostic procedures were performed according to the European LeukemiaNet recommendation and WHO classification for myeloid neoplasms. As the specific purpose was to dissect the pathobiology of SF3B1-mutant MDS-RS, all MDS-RS patients belonged to the SF3B1α category in the IPSS-M risk classification. RS presence was quantified according to standard clinical practice. Additional samples were collected from a total of 40 healthy normal bone marrow (NBM) donors for control purposes. Please note that a deidentified donor and experiment index is provided in the companion publication for this dataset, including clinical and mutational status. All source material was provided with written informed consent for research use, given in accordance with the Declaration of Helsinki.
Samples/material - Existing from scientific collection/biobank
Samples/material - Existing from scientific collection/biobank
Name:
Type(s) of sample:
Administrative information
Administrative information
Responsible department/unit:
Department of Medicine, Huddinge [H7]
Ethics Review:
Stockholm - 2017/1090-31/4
Funding
Funding
Funding agency:
- Knut and Alice Wallenberg Foundation
Award number:
2017.0359
Funding agency:
- Swedish Research Council
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Award number:
2021-01404_VR
Award title:
Disease mechanisms and targeted treatment in myelodysplastic syndromes
Funding information:
This translational research program aims at improving outcome for patients with myelodysplastic syndromes (MDS) by unravelling cellular and molecular mechanisms underlying disease features and response to treatment. Using a world-unique database of clinically annotated MDS patients who have undergone targeted DNA sequencing and RNA sequencing of CD34+ BM cells and has been complemented with comprehensive information regarding transfusion patterns and response to treatment we aim to develop novel predictive models for estimation of age-related survival loss, risk for progression, and optimal management and treatment. By using advanced culture models for human hemopoietic stem cell (HSC) biology and erythroid maturation in combination with single cell sequencing we will explore SF3B1 mutated MDS with ring sideroblasts with the aim to understand the clonal advantage of mutated over normal HSC and explore new molecular routes to prevent ineffective erythropoiesis and chronic transfusion dependency. Finally, we aim to implement and further improve recently developed methods for personalized minimal residual disease monitoring in a prospective clinical trial and thereby improve the cure rate after allogeneic stem cell transplantation in high-risk MDS. The long-term goal is to implement precision medicine in MDS in order to be able to predict and implement optimal management for each patient.
Funding agency:
- Swedish Cancer Society
Award number:
19 0200
Funding agency:
- Swedish Cancer Society
Award number:
21 0340
