Generation of integration-free induced pluripotent stem cell (iPSC) line MURAi002-A from hemoglobin E/β-thalassemia disease patient harboring βE/β0 (CD41/42, -CTTT) compound heterozygous mutation
Paediatrics
Generation of integration-free induced pluripotent stem cell (iPSC) line MURAi002-A from hemoglobin E/β-thalassemia disease patient harboring βE/β0 (CD41/42, -CTTT) compound heterozygous mutation
Paediatrics

Generation of integration-free induced pluripotent stem cell (iPSC) line MURAi002-A from hemoglobin E/β-thalassemia disease patient harboring βE/β0 (CD41/42, -CTTT) compound heterozygous mutation

Stem Cell Res. 2025 May 24;86:103743. doi: 10.1016/j.scr.2025.103743. Online ahead of print.

ABSTRACT

The HBB gene encodes the β-globin protein, a component of adult hemoglobin A (HbA) which is responsible for the transportation of oxygen. Mutations in the HBB gene can impair β-globin synthesis and disrupt hemoglobin production. Patients who possess both a protein-reducing β-thalassemia mutation and a βE mutation in their HBB gene are affected by hemoglobin E/β-thalassemia disease. This study demonstrates the successful generation and characterization of the human pluripotent stem cell (hiPSC) line MURAi002-A derived from a patient with hemoglobin E/β0-thalassemia disease harboring the specific codon 41/42 (-CTTT) β0-thalassemia mutation through the utilization of non-integrative reprogramming episomes.

PMID:40441082 | DOI:10.1016/j.scr.2025.103743