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Stem Cell Res ; 73: 103228, 2023 12.
Article in English | MEDLINE | ID: mdl-37890329

ABSTRACT

Hemoglobin E (HbE), a common variant in Southeast Asian populations, results from a G to A substitution at codon 26 of the HBB gene, causing abnormal Hb and mild ß-thalassemia-like symptoms. Here, we derived an induced pluripotent stem cell (iPSC) line, named MUi033-A, from a male homozygous for HbE. The iPSC line demonstrates a normal karyotype and embryonic stem cell-like properties including pluripotency gene expression, and tri-lineage differentiation potential. This iPSC resource holds the potential for investigating gene therapy targeting HbE mutation.


Subject(s)
Hemoglobin E , Induced Pluripotent Stem Cells , beta-Thalassemia , Humans , Male , Hemoglobin E/genetics , Hemoglobin E/metabolism , Induced Pluripotent Stem Cells/metabolism , Mutation , beta-Thalassemia/genetics , beta-Thalassemia/metabolism , beta-Thalassemia/therapy , Homozygote
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