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Clinical and Laboratory Aspects of Preimplantation Genetic Diagnosis and Derivation of Affected Human Embryonic Stem Cell Lines

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Adult and Embryonic Stem Cells

Part of the book series: Stem Cell Biology and Regenerative Medicine ((STEMCELL))

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Abstract

Preimplantation genetic diagnosis (PGD) consists of diagnostic ­procedures detecting a genetic condition(s) in the oocyte or embryo produced by in vitro fertilization (IVF) prior to pregnancy. Chromosomal abnormalities and single gene disorders can be tested by PGD, which gives the parents the opportunity to choose unaffected embryos for transfer. Establishment of affected human embryonic stem cell (hESC) lines from affected preembryos with genetic disorders diagnosed by PGD provides a powerful research tool for exploring fundamental biological mechanisms of early stages of development. This, in turn, leads to the development of new approaches for diagnosing, treating, and preventing genetic disorders. Human embryonic stem cell (hESC) lines are pluripotent and can ­produce all types of cell lineages in the body. Considering the presence of genetic diversities and polymorphisms in populations, there is a need for large hESC line collections to provide the various genetic components for research purposes. There are several advantages and a uniqueness of hESC research. It cannot be done in animal models or with cell culture methods. Also, it has an invaluable place in pharmacogenomic testing and regenerative medicine applications as affected hESCs of some disorders are the only biological tools we have as disease models.

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Authors and Affiliations

  1. Children’s Memorial Research Center, Stem Cell Core, Northwestern University`s Feinberg School of Medicine and Istanbul Genetik Grubu, International Reproductive Genetic Diagnosis Center—InteRepGen, Turkali Mah. Nuzhetiye Cad. No:38/A 34357, Besiktas, Istanbul, Turkey

    Rıdvan Seçkin Özen M.D., Ph.D.

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  1. Rıdvan Seçkin Özen M.D., Ph.D.
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Correspondence to Rıdvan Seçkin Özen M.D., Ph.D. .

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  1. Smyth Rd 501, Ottawa, K1H 8L6, Canada

    Kursad Turksen

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Özen, R.S. (2012). Clinical and Laboratory Aspects of Preimplantation Genetic Diagnosis and Derivation of Affected Human Embryonic Stem Cell Lines. In: Turksen, K. (eds) Adult and Embryonic Stem Cells. Stem Cell Biology and Regenerative Medicine. Humana Press. https://doi.org/10.1007/978-1-61779-630-2_13

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