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

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.