Stem Cell Research (Aug 2019)

Generation and characterization of induced pluripotent stem cell line (IGIBi001-A) from a sickle cell anemia patient with homozygous β-globin mutation

  • Nupur Bhargava,
  • Shashank Jaitly,
  • Sangam Giri Goswami,
  • Suman Jain,
  • Debojyoti Chakraborty,
  • Sivaprakash Ramalingam

Journal volume & issue
Vol. 39

Abstract

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Sickle cell disease (SCD) is an autosomal recessive disorder caused by a mutation in β-globin (HBB) gene. We have generated an induced pluripotent stem cell (iPSC) line, IGIBi001-A from an Indian sickle cell patient with a homozygous HBB gene mutation using Sendai virus reprogramming system. Characterization of IGIBi001-A showed that these iPSCs are transgene-free and expressed pluripotent stem cell markers. They had a normal karyotype and were able to differentiate into all three germ layers. This new SCD-iPSC line will contribute to better understanding of the disease biology of sickle cell anemia and for screening of small molecule drugs.