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
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...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-08-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125000935 |
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| author | Gunn Pornratananont Amornrat Tangprasittipap Chokdee Wongborisuth Sukanya Chumchuen Kanit Bhukhai Usanarat Anurathapan Suradej Hongeng Duantida Songdej |
| author_facet | Gunn Pornratananont Amornrat Tangprasittipap Chokdee Wongborisuth Sukanya Chumchuen Kanit Bhukhai Usanarat Anurathapan Suradej Hongeng Duantida Songdej |
| author_sort | Gunn Pornratananont |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-d62846e448444febbabb4bdbb8e08a7a |
| institution | DOAJ |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-d62846e448444febbabb4bdbb8e08a7a2025-08-20T03:10:46ZengElsevierStem Cell Research1873-50612025-08-018610374310.1016/j.scr.2025.103743Generation 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 mutationGunn Pornratananont0Amornrat Tangprasittipap1Chokdee Wongborisuth2Sukanya Chumchuen3Kanit Bhukhai4Usanarat Anurathapan5Suradej Hongeng6Duantida Songdej7Program in Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, ThailandOffices of Health Science Research, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, ThailandOffices of Health Science Research, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, ThailandOffices of Health Science Research, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, ThailandDepartment of Physiology, Faculty of Science, Mahidol University, Bangkok 10400, ThailandDivision of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandDivision of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandDivision of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S1873506125000935 |
| spellingShingle | Gunn Pornratananont Amornrat Tangprasittipap Chokdee Wongborisuth Sukanya Chumchuen Kanit Bhukhai Usanarat Anurathapan Suradej Hongeng Duantida Songdej 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 Research |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506125000935 |
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