Erythropoietic differentiation of a human embryonic stem cell line harbouring the sickle cell anaemia mutation

Reprod Biomed Online. 2010 Aug;21(2):196-205. doi: 10.1016/j.rbmo.2010.04.017. Epub 2010 Apr 24.


Herein is reported efficient erythropoietic differentiation of a human embryonic stem cell (ESC) line derived from a preimplantation genetic diagnosis (PGD)-screened embryo that harbours the homozygous sickle cell disease (SCD) haemoglobinopathy mutation. This human ESC line possesses typical pluripotency characteristics and forms multilineage teratomas in vivo. SCD-human ESC efficiently differentiated to the haematopoietic lineage under serum-free and stromal co-culture conditions and gave rise to robust primitive and definitive erythrocytes. Expression of embryonic, fetal and adult sickle globin genes in SCD PGD-derived human ESC-derived erythrocytes was confirmed by quantitative real-time PCR, intracytoplasmic fluorescence-activated cell sorting and in-situ immunostaining of PGD-derived human ESC teratoma sections. These data introduce important methodologies and paradigms for using patient-specific human ESC to generate normal and haemoglobinopathic erythroid progenitors for biomedical research.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Sickle Cell / genetics*
  • Base Sequence
  • Coculture Techniques
  • Culture Media, Serum-Free
  • DNA Primers
  • Embryonic Stem Cells / cytology*
  • Flow Cytometry
  • Humans
  • Karyotyping
  • Mutation*
  • Polymerase Chain Reaction


  • Culture Media, Serum-Free
  • DNA Primers