Aneuploid human embryonic stem cells: origins and potential for modeling chromosomal disorders.

ABSTRACT

Chromosomal aneuploidies are widely recognized genetic disorders in humans that often lead to spontaneous abortion. Aneuploid fetuses that survive to term commonly exhibit impaired developmental growth and mental retardation in addition to multiple congenital malformations. Preimplantation genetic screening is used to detect chromosomal aneuploidies in early embryos. Human embryonic stem cell (ESC) cell lines generated from aneuploid embryos created a unique repository of cell lines. The spectrum of aneuploidies in these ESC lines reflects the range of common embryonic chromosomal aberrations and significantly differs from the spectrum of aneuploid human ESC lines generated by cell adaptation in culture. The aneuploid human ESC lines represent an excellent model to study human chromosomal abnormalities especially in the early stages of development.