Establishment and characterization of induced pluripotent stem cell line (IGIBi002-A) from a β-thalassemia patient with IVS1-5 mutation by non-integrating reprogramming approach


β-thalassemia (BT) is a hereditary blood disorder caused by mutations in the β-globin (HBB) gene leading to severely reduced or no synthesis of the β-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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Thakur P, Bhargava N, Jaitly S, Gupta P, Kumar Bhattacharya S, Padma G, Kondaveeti S, Jain S, Ramalingam S
Journal Stem cell research
Publication Date 2020 Dec 10;50:102124
PubMed 33338925
DOI 10.1016/j.scr.2020.102124

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