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

Priya Thakur; Nupur Bhargava; Shashank Jaitly; Pragya Gupta; Saurabh Kumar Bhattacharya; G Padma; Saroja Kondaveeti; Suman Jain; Sivaprakash Ramalingam

doi:10.1016/j.scr.2020.102124

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

Stem Cell Res. 2020 Dec 10:50:102124. doi: 10.1016/j.scr.2020.102124. Online ahead of print.

Authors

Priya Thakur¹, Nupur Bhargava¹, Shashank Jaitly¹, Pragya Gupta¹, Saurabh Kumar Bhattacharya², G Padma³, Saroja Kondaveeti³, Suman Jain³, Sivaprakash Ramalingam¹

Affiliations

¹ Genomics and Molecular Medicine Unit, CSIR-Institute of Genomics and Integrative Biology, Mathura Road, Sukhdev Vihar, New Delhi, India; Academy of Scientific and Innovative Research (AcSIR), Ghazhiabad, India.
² National Reference Laboratory, Dr. Lal Path Labs Ltd, New Delhi. India.
³ Thalassemia and Sickle Cell Society, Rajendra Nagar, Hyderabad, India.

PMID: 33338925
DOI: 10.1016/j.scr.2020.102124

Abstract

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.