A Euploid Line of Human Embryonic Stem Cells Derived from a 43,XX,dup(9q),+12,-14,-15,-18,-21 Embryo

• Published in: PloS one Vol. 10; no. 11; p. e0140999
• Main Authors: Fonseca, Simone Aparecida Siqueira, Costas, Roberta Montero, Morato-Marques, Mariana, Costa, Silvia, Alegretti, Jose Roberto, Rosenberg, Carla, da Motta, Eduardo Leme Alves, Serafini, Paulo C, Pereira, Lygia V
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 05.11.2015; Public Library of Science (PLoS)
• Subjects: Biopsy; Blastomeres; Cell Line; Chromosome aberrations; Chromosomes; Cytogenetic Analysis; Deoxyribonucleic acid; Diagnostic systems; DNA; Embryo cells; Embryo, Mammalian - cytology; Embryonic Stem Cells - physiology; Embryos; Evolutionary biology; Flow Cytometry; Genetic screening; Genetic testing; Genetics; Humans; In Situ Hybridization, Fluorescence; In vitro fertilization; Karyotyping; Laboratories; Mosaicism; Ploidies; Polymorphism; Polymorphism, Single Nucleotide - genetics; Single-nucleotide polymorphism; Stem cells; Trophectoderm; Brazil; United States > US
• DOI: 10.1371/journal.pone.0140999
• ISSN: 1932-6203

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.