1.
Stem Cell Res
; 50: 102124, 2020 Dec 10.
Article
in English
| MEDLINE
| ID: mdl-33338925
ABSTRACT
ß-thalassemia (BT) is a hereditary blood disorder caused by mutations in the ß-globin (HBB) gene leading to severely reduced or no synthesis of the ß-chain of adult hemoglobin. IVS1-5 (G > C) is the most common BT mutation in Indian population and yet no patient-specific cellular models have been generated. Here, we have established an induced pluripotent stem cell (iPSC) line, IGIBi002-A from a thalassemia patient with a homozygous IVS1-5(G > C) mutation. Characterization of IGIBi002-A demonstrated that these iPSCs are free of exogenous reprogramming genes and expressed pluripotent stem cell markers, exhibited a normal karyotype and were potential of three germ layer differentiation.