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Genetic and epigenetic X-chromosome variations in a parthenogenetic human embryonic stem cell line

  • Stem Cell Biology
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

To assess the genetic and epigenetic status of parthenogenetic human embryonic stem cells (phESCs).

Methods

Cytogenetics, X chromosome inactivation (XCI) and gene expression patterns were analyzed in one phESC line (FY-phES-018) that was derived from our laboratory.

Results

FY-phES-018 cells displayed the classical characteristics of normal hESCs. These cells had a 46, XX karyotype, and no inactive X chromosomes were observed before passage 20. After being cultured long term in vitro, some cells lost one X, and the proportion of cells with only one X gradually increased. At passage 35, almost all the cells displayed a 45, XO karyotype. Interestingly, at passage 45, the recovery of the X-chromosome was observed, and XCI became detectable; the mosaic ratio of 46, XX to 45, XO was 67:33. After passage 60, most cells displayed the 46, XX karyotype again with a mosaic ratio of 97:3. Some aberrant genomic imprinting was also observed in these cells.

Conclusions

The phESCs line FY-phES-018 is both genetically and epigenetically unstable; therefore, further research is needed before using these cells.

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Acknowledgments

This work was supported by the National Natural Science Foundation of China (30871378).

Author Disclosure Statement

No competing financial interests exist.

Author information

Authors and Affiliations

  1. Guangzhou Key Laboratory of Reproductive and Genetics; Institute of Gynecology and Obstetrics, The Third Affiliated Hospital of Guangzhou Medical College, Guangzhou, 510150, China

    Weiqiang Liu, Yifei Yin, Yonghua Jiang, Yumei Luo, Shengchang Huang, Yuhong Zheng, Shaoying Li, Qing Li, Liyuan Guo & Xiaofang Sun

  2. National Institute of Biological Sciences (NIBS), Beijing, 102206, China

    Chaohui Kou & Shaorong Gao

Authors
  1. Weiqiang Liu
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  2. Yifei Yin
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  3. Yonghua Jiang
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  4. Chaohui Kou
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  5. Yumei Luo
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  6. Shengchang Huang
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  7. Yuhong Zheng
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  8. Shaoying Li
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  9. Qing Li
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  10. Liyuan Guo
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  11. Shaorong Gao
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  12. Xiaofang Sun
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Corresponding authors

Correspondence to Shaorong Gao or Xiaofang Sun.

Additional information

Capsule

X chromosome loss and recovery accompanied by variations in X chromosome inactivation were found in one parthenogenetic human embryonic stem cell line.

Weiqiang Liu, Yifei Yin, and Yonghua Jiang contributed equally to this work.

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Liu, W., Yin, Y., Jiang, Y. et al. Genetic and epigenetic X-chromosome variations in a parthenogenetic human embryonic stem cell line. J Assist Reprod Genet 28, 303–313 (2011). https://doi.org/10.1007/s10815-010-9517-1

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  • DOI: https://doi.org/10.1007/s10815-010-9517-1

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