title: Human Embryonic Stem Cell Lines with Lesions in FOXP3 and NF1.
abstract: Human embryonic stem cells (hESCs) are derived from the inner cell mass (ICM) of blastocyst staged embryos. Spare blastocyst staged embryos were obtained by in vitro fertilization (IVF) and donated for research purposes. hESCs carrying specific mutations can be used as a powerful cell system in modeling human genetic disorders. We obtained preimplantation genetic diagnosed (PGD) blastocyst staged embryos with genetic mutations that cause human disorders and derived hESCs from these embryos. We applied laser assisted micromanipulation to isolate the inner cell mass from the blastocysts and plated the ICM onto the mouse embryonic fibroblast cells. Two hESC lines with lesions in FOXP3 and NF1 were established. Both lines maintain a typical undifferentiated hESCs phenotype and present a normal karyotype. The two lines express a panel of pluripotency markers and have the potential to differentiate to the three germ layers in vitro and in vivo. The hESC lines with lesions in FOXP3 and NF1 are available for the scientific community and may serve as an important resource for research into these disease states.
authors.affiliation: Department of Genetics, Stanford University, Stanford, California, 94305, United States of America.
authors.forename: Hui
authors.initials: H
authors.lastname: Zhu
authors.affiliation: Stanford IVF Laboratory, Stanford Fertility and Reproductive Health, Lucile Packard Childrens Hospital Stanford, Palo Alto, California, 94304, United States of America.|Department of Obstetrics/Gynecology, Stanford University School of Medicine, Stanford, California, 94305, United States of America.
authors.forename: Barry
authors.initials: B
authors.lastname: Behr
authors.affiliation: Stanford IVF Laboratory, Stanford Fertility and Reproductive Health, Lucile Packard Childrens Hospital Stanford, Palo Alto, California, 94304, United States of America.
authors.forename: Vikrant V
authors.initials: VV
authors.lastname: Reddy
authors.affiliation: Genesis Genetics Institute, Plymouth, Michigan, 48170, United States of America.
authors.forename: Mark
authors.initials: M
authors.lastname: Hughes
authors.affiliation: Department of Medicine, Division of Blood and Marrow Transplantation, Stanford University, Stanford, California, 94305, United States of America.
authors.forename: Yuqiong
authors.initials: Y
authors.lastname: Pan
authors.affiliation: Department of Genetics, Stanford University, Stanford, California, 94305, United States of America.
authors.forename: Julie
authors.initials: J
authors.lastname: Baker
mesh_terms: D002460:Cell Line; D051858:Forkhead Transcription Factors / Q000235:genetics*; D000066449:Human Embryonic Stem Cells / Q000502:physiology*; D006801:Humans; D009154:Mutation; D025542:Neurofibromin 1 / Q000235:genetics*; D039904:Pluripotent Stem Cells / Q000502:physiology
chemical_list: C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors; D025542:Neurofibromin 1