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

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)196-205
Number of pages10
JournalReproductive BioMedicine Online
Volume21
Issue number2
DOIs
StatePublished - Aug 1 2010

Keywords

  • haematopoiesis
  • human embryonic stem cells
  • preimplantation genetic diagnosis
  • red blood cells
  • sickle cell anaemia

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology
  • Developmental Biology

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