title: Human embryonic stem cells carrying mutations for severe genetic disorders.
abstract: 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 dalitb@tasmc.health.gov.il.
authors.affiliation: Racine IVF Unit, Lis Maternity Hospital, Tel-Aviv Sourasky Medical Center, 6 Weizmann St., Tel-Aviv 64239, Israel.
authors.forename: Tsvia
authors.initials: T
authors.lastname: Frumkin
authors.forename: Mira
authors.initials: M
authors.lastname: Malcov
authors.forename: Michael
authors.initials: M
authors.lastname: Telias
authors.forename: Veronica
authors.initials: V
authors.lastname: Gold
authors.forename: Tamar
authors.initials: T
authors.lastname: Schwartz
authors.forename: Foad
authors.initials: F
authors.lastname: Azem
authors.forename: Ami
authors.initials: A
authors.lastname: Amit
authors.forename: Yuval
authors.initials: Y
authors.lastname: Yaron
authors.forename: Dalit
authors.initials: D
authors.lastname: Ben-Yosef
mesh_terms: D001755:Blastocyst / Q000166:cytology / Q000378:metabolism; D002454:Cell Differentiation / Q000235:genetics; D002460:Cell Line; D003114:Colony-Forming Units Assay; D053595:Embryonic Stem Cells / Q000166:cytology* / Q000378:metabolism*; D018507:Gene Expression Regulation, Developmental; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D039904:Pluripotent Stem Cells / Q000166:cytology / Q000378:metabolism; D019836:Preimplantation Diagnosis / Q000379:methods*; D015203:Reproducibility of Results