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Due to system maintenance, the application system, application review by the Data Access Committee will be unavailable during the following period.
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Following a change to our organizational structure effective April 1, 2026, this division has been renamed from the "Database Center for Life Science, Joint Support-Center for Data Science Research" to the "Database Division for Life Science (DBCLS), BioData Science Initiative (BSI), National Institute of Genetics (NIG)". Where the former name still appears in the guidelines, please read it as the new name.

Research ID

hum0378-v1Release info

Latest

Research title

Basic research to elucidate the pathogenesis of hemolytic anemia

Research overview

Aims
To investigate the mechanisms of clonal expansion in hemolytic anemia, especially in conditions where cold agglutinin disease (CAD) and paroxysmal nocturnal hemoglobinuria (PNH) clones are detected. Patient samples will be subjected to whole-exome sequencing (WES), RNA-seq, ChIP-seq, and single-cell analyses to detect gene mutations, gene expression, fusion genes, and epigenetics.
Methods
DNAs extracted from buccal mucosa and bone marrow aspirates collected at the time of diagnosis were examined for genetic mutations by WES.
Participants/materials
2 CADs
URL
N/A

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000709NGS (Exome)
  • WES
Controlled-access (Type I)2024-09-11
JGAD000741NGS (Exome)
  • WES
Controlled-access (Type I)2024-09-11

Data provider

Principal investigator
Daisuke Koyama
Affiliation
Department of hematology, Fukushima Medical University

Research projects

NameURL
Basic research to elucidate the pathogenesis of hemolytic anemia
N/A

Grants

NameTitleProject number
KAKENHI Grant-in-Aid for Scientific Research (C)
Structural basis of intracellular metabolic regulation in leukemia
  • 22K08514
Takeda Science Foundation
The Discovery of a Novel Mechanism in Leukemic Stem Cell Formation: Metabolic Reprogramming by LSD1
N/A

Related publications

TitleDOIDataset ID
A case of cold agglutinin syndrome associated with chronic lymphocytic leukaemia harbouring mutations in CARD11 and KMT2D
https://doi.org/10.1007/s12185-023-03608-9 (opens in a new tab)
Lymphoplasmacytic lymphoma presenting cold agglutinin syndrome: Clonal expansion of KMT2D and IGHV4-34 mutations after COVID-19
https://doi.org/10.1111/bjh.19106 (opens in a new tab)

Controlled access users

No use of the controlled access data has been recorded.