title: A Euploid Line of Human Embryonic Stem Cells Derived from a 43,XX,dup(9q),+12,-14,-15,-18,-21 Embryo.
abstract: Aneuploid embryos diagnosed by FISH-based preimplantation genetic screening (PGS) have been shown to yield euploid lines of human embryonic stem cells (hESCs) with a relatively high frequency. Given that the diagnostic procedure is usually based on the analysis of 1-2 blastomeres of 5 to 10-cell cleavage-stage embryos, mosaicism has been a likely explanation for the phenomena. However, FISH-based PGS can have a significant rate of misdiagnosis, and therefore some of those lines may have been derived from euploid embryos misdiagnosed as aneuploid. More recently, coupling of trophectoderm (TE) biopsy at the blastocyst stage and array-CGH lead to a more informative form of PGS. Here we describe the establishment of a new line of hESCs from an embryo with a 43,XX,dup(9q),+12,-14,-15,-18,-21 chromosomal content based on array-CGH of TE biopsy. We show that, despite the complex chromosomal abnormality, the corresponding hESC line BR-6 is euploid (46,XX). Single nucleotide polymorphism analysis showed that the embryo's missing chromosomes were not duplicated in BR-6, suggesting the existence of extensive mosaicism in the TE lineage.
authors.affiliation: National Laboratory of Embryonic Stem Cell (LaNCE), University of São Paulo, São Paulo, Brazil.|Department of Genetics and Evolutionary Biology, University of São Paulo, São Paulo, Brazil.
authors.forename: Simone Aparecida Siqueira
authors.initials: SA
authors.lastname: Fonseca
authors.affiliation: National Laboratory of Embryonic Stem Cell (LaNCE), University of São Paulo, São Paulo, Brazil.
authors.forename: Roberta Montero
authors.initials: RM
authors.lastname: Costas
authors.affiliation: National Laboratory of Embryonic Stem Cell (LaNCE), University of São Paulo, São Paulo, Brazil.|Department of Genetics and Evolutionary Biology, University of São Paulo, São Paulo, Brazil.
authors.forename: Mariana
authors.initials: M
authors.lastname: Morato-Marques
authors.affiliation: Department of Genetics and Evolutionary Biology, University of São Paulo, São Paulo, Brazil.
authors.forename: Silvia
authors.initials: S
authors.lastname: Costa
authors.affiliation: Huntington-Center of Human Reproduction, São Paulo, Brazil.
authors.forename: Jose Roberto
authors.initials: JR
authors.lastname: Alegretti
authors.affiliation: Department of Genetics and Evolutionary Biology, University of São Paulo, São Paulo, Brazil.
authors.forename: Carla
authors.initials: C
authors.lastname: Rosenberg
authors.affiliation: Huntington-Center of Human Reproduction, São Paulo, Brazil.
authors.forename: Eduardo Leme Alves
authors.initials: EL
authors.lastname: da Motta
authors.affiliation: Huntington-Center of Human Reproduction, São Paulo, Brazil.
authors.forename: Paulo C
authors.initials: PC
authors.lastname: Serafini
authors.affiliation: National Laboratory of Embryonic Stem Cell (LaNCE), University of São Paulo, São Paulo, Brazil.|Department of Genetics and Evolutionary Biology, University of São Paulo, São Paulo, Brazil.
authors.forename: Lygia V
authors.initials: LV
authors.lastname: Pereira
mesh_terms: D002460:Cell Line; D020732:Cytogenetic Analysis; D004622:Embryo, Mammalian / Q000166:cytology; D053595:Embryonic Stem Cells / Q000502:physiology*; D005434:Flow Cytometry; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D011003:Ploidies; D020641:Polymorphism, Single Nucleotide / Q000235:genetics