Chinese Journal of Tissue Engineering Research ›› 2012, Vol. 16 ›› Issue (36): 6696-6701.doi: 10.3969/j.issn.2095-4344.2012.36.009

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Establishment and characterization of human embryonic stem cell line of klinefelter syndrome

Ke Qiong1, Huang Min-zhen2, Li Wei-qiang1, 3, Wang Tao1, Xiang Peng1, 3   

  1. 1Center for Stem Cell Biology and Tissue Engineering, Sun Yat-sen University, Guangzhou 510080, Guangdong Province, China;
    2Reproductive Medicine Center, Wuhan General Hospital of Guangzhou Military Command, Wuhan 430060, Hubei Province, China;
    3Department of Biochemistry, Zhongshan Medical School, Sun Yat-sen University, Guangzhou 510080, Guangdong Province, China
  • Received:2012-06-09 Revised:2012-06-22 Online:2012-09-02 Published:2012-09-02
  • Contact: Ke Qiong☆, Studying for doctorate, Center for Stem Cell Biology and Tissue Engineering, Sun Yat-sen University, Guangzhou 510080, Guangdong Province, China kqbear@163.com
  • About author:柯琼☆，女，1980 年生，广东省汕头市人，汉族，中山大学在读博士，主要从事胚胎干细胞的研究。 kqbear@163.com

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Abstract:

BACKGROUND: Klinefelter syndrome is the most common sex chromosome abnormality. The mechanism of this disease and the variation of chromosome are still unknown.
OBJECTIVE: To establish human embryonic stem cell line of Klinefelter syndrome and to identify whether the cells are characterized as normal embryonic stem cells.
METHODS: Blastulas were cultured to the blastocyst stage and inner cell mass was isolated by immunosurgery. Inner cell mass was then plated on irradiated feeder layer and a stable human embryonic stem cell line was established. Giemsa staining was performed for karyotype analysis. The characteristics of human embryonic stem cell line were analyzed by detection of pluripotent marker expression and differentiation capacity in vivo and in vitro.
RESULTS AND CONCLUSION: One human embryonic stem cell line (karyotype: 47, XXY) was obtained from five embryos. The cells expressed alkaline phosphatase, Nanog, Oct4, SSEA-4, Sox2, TRA-1-60 and were able to differentiate into cell types of three germ layers. Human embryonic stem cell line of Klinefelter syndrome was successfully established and provides a valuable model for studying Klinefelter syndrome and functions of sex chromosome.

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