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


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

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