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Hum. Reprod. Advance Access originally published online on November 10, 2005
Human Reproduction 2006 21(2):503-511; doi:10.1093/humrep/dei345
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© The Author 2005. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Derivation of human embryonic stem cell lines from embryos obtained after IVF and after PGD for monogenic disorders

I. Mateizel1,*, N. De Temmerman1,*, U. Ullmann1,*, G. Cauffman1, K. Sermon1,2,5, H. Van de Velde1,3, M. De Rycke1,2, E. Degreef4, P. Devroey1,3, I. Liebaers1,2 and A. Van Steirteghem1,3

1 Research Centre for Reproduction and Genetics, 2 Centre for Medical Genetics, 3 Centre for Reproductive Medicine and 4 Department of Pathology, University Hospital and Medical School of the Vrije Universiteit Brussel (Dutch-speaking Brussels Free University) Laarbeeklaan 101, 1090 Brussels, Belgium * These authors contributed equally to this work

5 To whom correspondence should be addressed at: University Hospital and Medical School of the Vrije Universiteit Brussel, Research Centre for Reproduction and Genetics, Laarbeeklaan 101, 1090 Brussels, Belgium. E-mail: karen.sermon{at}az.vub.ac.be

BACKGROUND: Human embryonic stem (hES) cells are pluripotent cells usually derived from the inner cell mass (ICM) of blastocysts. Because of their ability to differentiate into all three embryonic germ layers, hES cells represent an important material for studying developmental biology and cell replacement therapy. hES cell lines derived from blastocysts diagnosed as carrying a genetic disorder after PGD represent in vitro disease models. METHODS: ICMs isolated by immunosurgery from human blastocysts donated for research after IVF cycles and after PGD were plated in serum-free medium (except VUB01) on mouse feeder layers. RESULTS: Five hES cell lines were isolated, two from IVF embryos and three from PGD embryos. All lines behave similarly in culture and present a normal karyotype. The lines express all the markers considered characteristic of undifferentiated hES cells and were proven to be pluripotent both in vitro and in vivo (ongoing for VUB05_HD). CONCLUSIONS: We report here on the derivation of two hES cell lines presumed to be genetically normal (VUB01 and VUB02) and three hES cell lines carrying mutations for myotonic dystrophy type 1 (VUB03_DM1), cystic fibrosis (VUB04_CF) and Huntington disease (VUB05_HD).

Key words: cystic fibrosis/disease models/human embryonic stem cells/Huntington disease/myotonic dystrophy


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