Erythropoietic differentiation of a human embryonic stem cell line harbouring the sickle cell anaemia mutation
Summary
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. 2010 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.
| Authors | Pryzhkova MV, Peters A, Zambidis ET |
|---|---|
| Journal | Reproductive biomedicine online |
| Publication Date | 2010 Aug;21(2):196-205 |
| PubMed | 20541472 |
| PubMed Central | PMC3507446 |
| DOI | 10.1016/j.rbmo.2010.04.017 |