hum0434-v1Release info

Genetic analyses in patients with T or NK cells-associated disorders

Aims

The aim of this study is to identify somatic gene mutations associated with various diseases involving T cells or NK cells, and to perform integrated analyses with clinical data in order to elucidate gene sets that contribute to disease onset or treatment resistance. These findings are expected to provide fundamental data for the development of novel diagnostic criteria and therapeutic agents.

Methods

whole exome sequencing and target capture sequencing

Participants/materials

- whole exome sequencing: CD4-positive cells and CD8-positive cells were isolated from 10 patients with pure red cell aplasia were used.
- targeted capture sequencing: Peripheral blood mononuclear cells (PBMCs) from 53 patients with pure red cell aplasia, 10 patients with aplastic anemia, 2 healthy controls, and 55 patients with large granular lymphocytic leukemia were used. For 4 patients with pure red cell aplasia, PBMCs were collected at 2 different time points (Case 1: onset and 9y later, Case 2: onset and 5y later, Case 3: onset and 6y later, Case 4: onset and 3y later).

URL

N/A

Principal investigator

Fumihiro Ishida

Affiliation

Department of Biomedical Laboratory Sciences, Shinshu University School of Medicine

No research projects.

No use of the controlled access data has been recorded.