Generation of integration-free induced pluripotent stem cell (iPSC) line MURAi002-A from hemoglobin E/β-thalassemia disease patient harboring β(E)/β(0) (CD41/42, -CTTT) compound heterozygous mutation
Summary
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. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Pornratananont G, Tangprasittipap A, Wongborisuth C, Chumchuen S, Bhukhai K, Anurathapan U, Hongeng S, Songdej D |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 May 24;86:103743 |
| PubMed | 40441082 |
| DOI | 10.1016/j.scr.2025.103743 |