Colony whole genome sequencing of hematopoietic stem and progenitor cell-derived colonies from 2 dual SF3B1-mutant MDS-RS patients
type: Dataset
description: This dataset consists of whole genome sequencing data from single cell-derived colonies obtained through colony-forming assays and culture of FACS-purified hematopoietic stem cells (HSC), multipotent progenitors (MPP), megakaryocyte-erythroid progenitors (MEP) and granulocyte-monocyte progenitors (GMP) from 2 MDS-RS patients, each with 2 competing SF3B1-mutant clones. The objective of this data collection was to assess the clonal hierarchy and history of the SF3B1 mutations. The dataset is approximately 1.2 GB and has filetypes zip, txt, phy and ojb.
citation: CreativeWork
  name: Pedro Luis Moura, Yasuhito Nannya, Affaf Aliouat, Isabel Juliana Hofman, Teresa Mortera Blanco, Tetsuichi Yoshizato, Ryunosuke Saiki, Masahiro M Nakagawa, Maria Creignou, Ann-Charlotte Björklund, Gunilla Walldin, Indira Barbosa, Monika Jansson, Francesca Grasso, Edda M Elvarsdottir, Petter S Woll, Sten Eirik W Jacobsen, Seishi Ogawa, Eva Hellström-Lindberg, Competition of dual SF3B1mt clones in MDS-RS is associated with distinct RNA mis-splicing in hematopoietic stem cells, Blood Neoplasia, 2024,100011, ISSN 2950-3280, https://doi.org/10.1016/j.bneo.2024.100011.
conditions of access: https://publications.europa.eu/resource/authority/access-right/NON_PUBLIC
conditions of access: info:eu-repo/semantics/restrictedAccess
contributor: Seishi Ogawa
  type: Person
  affiliation: Kyoto University
  family name: Ogawa
  given name: Seishi
contributor: Yasuhito Nannya
  type: Person
  affiliation: Kyoto University
  family name: Nannya
  given name: Yasuhito
creative work status: completed
  type: DefinedTerm
  in defined term set: http://publications.europa.eu/resource/authority/dataset-status
  term code: COMPLETED
creator: Pedro Luis Moura
creator: Eva Hellström-Lindberg
date modified: 2026-03-19
date published: 2024-04-18
funding: Disease mechanisms and targeted treatment in myelodysplastic syndromes
  type: Grant
  description: 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.
  funder: Swedish Research Council
funding: Grant
  identifier: 19 0200
  funder: Swedish Cancer Society
funding: Grant
  funder: Knut and Alice Wallenberg Foundation
funding: Grant
  identifier: 21 0340
  funder: Swedish Cancer Society
language: English
is part of: https://doi.org/10.48723/hsy5-va72
keywords: Natural Sciences
  type: DefinedTerm
  term code: 1
keywords: Biological Sciences
  type: DefinedTerm
  term code: 106
keywords: Cell Biology
  type: DefinedTerm
  term code: 10604
keywords: Genetics and Genomics
  type: DefinedTerm
  term code: 10609
keywords: Bioinformatics and Computational Biology
  type: DefinedTerm
  description: Including: Modelling, Machine Learning
  term code: 10610
keywords: Hematology
  type: DefinedTerm
  term code: 30202
keywords: Basic Cancer Research
  type: DefinedTerm
  term code: 30112
keywords: myelodysplastic syndromes
keywords: sf3b1
keywords: mds-rs
license: https://creativecommons.org/licenses/by-nc-nd/4.0/
publisher: Karolinska Institutet
distribution: documentation/DualMT_ColonyWGS_FileList.txt
  type: DataDownload
  additional type: documentation
  conditions of access: http://publications.europa.eu/resource/authority/access-right/PUBLIC
  conditions of access: info:eu-repo/semantics/openAccess
  content size: 5172
  encoding format: text/plain
distribution: documentation/Readme_ColonyWGS.txt
  type: DataDownload
  additional type: documentation
  conditions of access: http://publications.europa.eu/resource/authority/access-right/PUBLIC
  conditions of access: info:eu-repo/semantics/openAccess
  content size: 947
  encoding format: text/plain
version: 1

PropertyValue
property ID: DOI
value: 10.48723/n8wy-bb08

PropertyValue
property ID: DOI
value: 10.1016/j.bneo.2024.100011

Pedro Luis Moura
type: Person
affiliation: Karolinska Institutet
family name: Moura
given name: Pedro Luis

Karolinska Institutet
type: Organization
department: Department of Medicine, Huddinge/ Center for Hematology and Regenerative Medicine (HERM)
department: Department of Medicine, Huddinge / Center for Hematology and Regenerative Medicine (HERM)

Eva Hellström-Lindberg
type: Person
affiliation: Karolinska Institutet
family name: Hellström-Lindberg
given name: Eva

Swedish Research Council
type: Organization

English
type: Language
alternate name: eng