Human embryonic stem cells carrying mutations for severe genetic disorders

Tsvia Frumkin, Mira Malcov, Michael Telias, Veronica Gold, Tamar Schwartz, Foad Azem, Ami Amit, Yuval Yaron, Dalit Ben-Yosef

Research output: Contribution to journalArticlepeer-review


Human embryonic stem cells (HESCs) carrying specific mutations potentially provide a valuable tool for studying genetic disorders in humans. One preferable approach for obtaining these cell lines is by deriving them from affected preimplantation genetically diagnosed embryos. These unique cells are especially important for modeling human genetic disorders for which there are no adequate research models. They can be further used to gain new insights into developmentally regulated events that occur during human embryo development and that are responsible for the manifestation of genetically inherited disorders. They also have great value for the exploration of new therapeutic protocols, including gene-therapy-based treatments and disease-oriented drug screening and discovery. Here, we report the establishment of 15 different mutant human embryonic stem cell lines derived from genetically affected embryos, all donated by couples undergoing preimplantation genetic diagnosis in our in vitro fertilization unit. For further information regarding access to HESC lines from our repository, for research purposes, please email

Original languageEnglish
Pages (from-to)327-336
Number of pages10
JournalIn Vitro Cellular and Developmental Biology - Animal
Issue number3-4
StatePublished - Apr 2010


  • Human embryonic stem cells
  • Preimplantation genetic diagnosis (PGD)


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