Abstract
Preimplantation Genetic Diagnosis (PGD) provides unlimited source for obtaining human embryonic stem cell (hESC) lines. As PGD involves the pre-selection of the genetic disease – free embryos for transfer back to uterus the affected embryos are either discarded, or used for confirmation of diagnosis. Based on our busy PGD practice, which presently includes over 10,000 cases, we have had a plenty of affected embryos detected, which were used for derivation of the genetic disease specific hESC lines, which presently contains 87 hESC lines obtained from embryos with single-gene and chromosomal disorders. Fourteen lines have different chromosomal abnormalities, including 4 with chromosomal rearrangements, 24 autosomal recessive, 14 X-linked and 35 autosomal dominant disorders. In addition, screening of 137 normal hESC lines for polymorphism in the chemokine receptor 5 (CCR5) CMKBR5 gene resulted in detection of 12 hESC lines with CCR5-del32 allele, including one with two copies of the gene, conferring resistance to HIV. These cell lines are currently used for research purposes in many countries around the world.
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References
Ilic D, Giritharan G, Zdravkovic T, et al. Derivation of hESC lines from biopsied blastomeres on human feeders with minimal exposure to xenomaterials. Stem Cell Dev. 2009;18:1343–50.
Yang G, Mai Q, Li T, Zhou C. Derivation of hESC lines from single blastomeres of low quality embryos by direct plating. J Assist Reprod Genet. 2013;30:953–61.
Tompson JA, Itskovitz-Eldor J, Shapiro SS, et al. Embryonic stem cell lines derived from human blastocysts. Science. 1998;282:1145–7.
National Institutes of Health guidelines for research using human pluripotent stem cells. NIH stem cells information archives. 25 Aug 2000. www.nih.gov/news/stemcell/stemcellguidelines.htm.
Soukoyan MA, Vatolin SY, Golubitsa AN, et al. Embryonic stem cells derived from morulae, inner cell mass and blastocyst of mink: comparison of their pluripotencies. Mol Reprod Dev. 1993;36:148–58.
Stice SL, Strelchenko NS, Keefer CL, Matthews L. Pluripotent bovine embryonic stem cell lines direct embryonic development following nuclear transfer. Biol Reprod. 1996;54:100–10.
Shamblott MJ, Axelman J, Littlefield JM, et al. Human embryonic germ cell derivatives express a broad range of developmentally distinct markers and proliferate extensively in vitro. Proc Natl Acad Sci U S A. 2001;98:113–8.
Strelchenko N, Verlinsky O, Kukharenko V, Verlinsky Y. Morula derived human embryonic stem cells. Reprod BioMed Online. 2004;9:623–9.
Peura T, Boswan A, Chami O, et al. Karyotypically normal and abnormal hESC lines derived from PGD-analyzed embryos. Cloning Stem Cells. 2008;10:203–16.
Sous-Toby E, Gerecht-Nir S, Amit M, et al. Derivation of a diploid hESC line from mononuclear zygote. Hum Reprod. 2004;19:670–5.
Chen X, Luo Y, Fan Y, et al. Triploid and diploid embryonic stem cell lines derived from tripronuclear human zygotes. Assist Reprod Genet. 2012;29:713–21.
Draper JD, Smith K, Gokhale P, et al. Recurrent gain of chromosomes 17q and 12 in cultures human embryonic stem cells. Nat Biotechnol. 2004;22:53–4.
The International Stem Cell Initiative. Screening ethnically diverse hESC lines identifies a chromosome 20 minimal amplicon conferring growth advantage. Nat Biotechnol. 2011;29:1132–46.
Heins N, Englund MCO, Sjoblom C, et al. Derivation, characterization, and differentiation of human embryonic stem cells. Stem Cells. 2004;22:367–76.
Verlinsky Y, Strelchenko N, Kukharenko V, et al. Impact of meiotic and mitotic non-disjunction on generation of hESC lines. Reprod BioMed Online. 2009;18:120–6.
Verlinsky Y, Strelchenko N, Kukharenko V, et al. Hman embryonic stem cell lines with genetic disorders. Reprod BioMed Online. 2005;10:105–10.
Verlinsky Y, Kuliev A. Practical preimplantation genetic diagnosis. London: Springer; 2006.
Verlinsky Y, Strelchenko N, Kukharenko V, et al. Repository of human embryonic stem cell lines and development of individual specific lines using stembrid technology. Reprod BioMed Online. 2006;13:547–50.
Verlinsky Y, Strelchenko N, Kukharenko V, et al. Isolation of human embryonic stem cells from various stages of the human embryo. In: Lakshmipathy, editor. Emerging technology platforms for stem cells. Hoboken: Wiley; 2009. p. 19–27.
Pickering S, Minger S, Patel M, et al. Generation of a hESC line encoding the cystic fibrosis mutation Delta F-508 using preimplantation genetic diagnosis. Reprod BioMed Online. 2005;10:390–7.
Liu R, Paxton WA, Choe S, Ceradini D, Martin SR, Horuk R, MacDonald ME, Stuhlmann H, Koup RA, Landau NR. Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection. Cell. 1996;86:367–77.
Hütter G, Nowak D, Mossner M, et al. Long-term control of HIV by CCR5 Delta32/Delta32 stem-cell transplantation. N Engl J Med. 2009;360:692–8.
Pomerantseva E, Kukharenko V, Goodman A, Vrlinsky O, Rechitsky S, Kuliev A. Human embryonic stem cell lines with CCR5-del32 allele conferring resistance to HIV. Stem Cell Discov. 2011;1:67–70.
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Kuliev, A., Verlinsky, O., Rechitsky, S. (2016). Genetic Disease Specific Human Embryonic Stem Cell Lines. In: Bhattacharya, N., Stubblefield, P. (eds) Human Fetal Growth and Development. Springer, Cham. https://doi.org/10.1007/978-3-319-14874-8_19
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DOI: https://doi.org/10.1007/978-3-319-14874-8_19
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