Genetic disease specific human embryonic stem cell lines

Abstract

Preimplantation Genetic Diagnosis (PGD) provides unlimited source for obtaining human embryonic stem cell (hESC) lines. As PGD involves the pre-selection of the genetic disease - free embryos for transfer back to uterus the affected embryos are either discarded, or used for confirmation of diagnosis. Based on our busy PGD practice, which presently includes over 10,000 cases, we have had a plenty of affected embryos detected, which were used for derivation of the genetic disease specific hESC lines, which presently contains 87 hESC lines obtained from embryos with single-gene and chromosomal disorders. Fourteen lines have different chromosomal abnormalities, including 4 with chromosomal rearrangements, 24 autosomal recessive, 14 X-linked and 35 autosomal dominant disorders. In addition, screening of 137 normal hESC lines for polymorphism in the chemokine receptor 5 (CCR5) CMKBR5 gene resulted in detection of 12 hESC lines with CCR5-del32 allele, including one with two copies of the gene, conferring resistance to HIV. These cell lines are currently used for research purposes in many countries around the world.