Human embryonic stem cells derived from abnormal blastocyst donated by Marfan syndrome patient

Abstract Human embryonic stem cell (hESC) line was derived from abnormal blastocyst donated by Marfan syndrome patient after preimpantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that the hESC line carried the heterozygous deletion mutation, c.3536delA, of FBN1 gene. Characteristic tests proved that the hESC line presented typical markers of pluripotency and had the capability to form the three germ layers both in vitro and in vivo .