Search

Background: Human embryonic stem cell (hESC) lines derived from poor quality embryos usually have either normal or abnormal karyotypes. However, it is still unclear whether their biological characteristics are similar.Methods: Seven new hESC lines were established using discarded embryos. Five cell lines had normal karyotype, one was with an unbalanced Robertsonian translocation and one had a triploid karyotype. Their biological characteristics, short tandem repeat loci, HLA typing, differentiation capability and imprinted gene, DNA methylation and X chromosome inactivation status were compared between different cell lines.Results: All seven hESC lines had similar biological characteristics regardless of karyotype (five normal and two abnormal), such as expression of stage-specific embryonic antigen (SSEA)-4, tumor-rejection antigen (TRA)-1-81 and TRA-1-60 proteins, transcription factor octamer binding protein 4 mRNA, no detectable expression of SSEA-1 protein and high levels of alkaline phosphatase activity. All cell lines were able to undergo differentiation. Imprinted gene expression and DNA methylation were also similar among these cell lines. Non-random X chromosome inactivation patterns were found in XX cell lines.Conclusions: The present results suggest that hESC lines with abnormal karyotype are also useful experimental materials for cell therapy, developmental biology and genetic research. [ABSTRACT FROM AUTHOR]

Background: There is a well-documented association between prenatally diagnosed chromosomal uniparental disomy and poor pregnancy outcome., Methods and Result: In this study, we identified an intrauterine growth restricted fetus carrying a maternal UPD 16 with segmental hetero- and isodisomy using the Affymetrix CytoScan HD SNP-array and the UPDtool. We also performed FISH to exclude trisomy mosaicism of chr.16. We then explored the genetic mechanisms of how imprinted genes cause clinical abnormalities. Additionally, we reviewed the mUPD16 literature, compared the clinical phenotypes of our patient with other reported cases, and assessed the loss of autosomal-recessive genes in the regions of homozygosity., Conclusions: Considering UPD mechanism of potential impact on the function of the placenta, the genetic composition of chromosome 16, and the information previous literature reports, we have reason to believe that UPD16 correlates with IUGR., (Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.)