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(580) REPOSITORY OF HUMAN EMBRYONIC STEM CELL LINES WITH DIFFERENT GENETIC DISORDERS. Verlinsky, Yury1, Strelchenko, Nick1, Kukharenko, Valeri1, Rechitsky, Svetlana1, Kuliev, Anver 1, 1 Reproductive Genetics Institute, Chicago, IL ABSTRACT- There is obvious need for establishment of embryonic stem cells (ESC) with different genetic abnormalities for developing new approaches for treatment, which became possible with introduction of preimplantation genetic diagnosis (PGD) and the techniques for the initiation of ES cells lines from preimplantation embryos. This also provides a unique opportunity of investigating the potential of establishing ESC lines depending on the genotype. Based on our ongoing PGD work, which currently includes 2,000 clinical cycles performed for genetic and chromosomal disorders, we attempted the establishment of ESC lines from embryos with single gene disorders and chromosomal aneuploidies. Our preliminary results show a poor outcome of ESC lines from the embryos with autosomal aneuploidies, which were detected in 53.1 % of preimplantation embryos obtained from patients of advanced reproductive age. In contrast, the efficiently of the derivation of ESC lines from the embryos with single gene disorders was not affected, resulting in the establishment of the first ESC line repository with different genetic abnormalities, which presently includes four lines with neurofibromatosis, one with Marfan syndrome,two with myotonic dystrophy and one with fragile-X syndrome. These lines, as well as the genetically normal ESC lines, established from normal spare human preimplantation embryos, were characterized as typical ESC, spontaneously differentiating in vitro into a variety of cell types. The established repository of genetically characterized ESC lines is currently available for research purposes and may be available on request. KEY WORDS: Single Gene Disorders, Preimplantation Genetic Diagnosis, Human Embryonic Stem Cells, Chromosomal Disorders |
