title: Generation of KCL024 research grade human embryonic stem cell line carrying a mutation in NF1 gene.
abstract: The KCL024 human embryonic stem cell line was derived from an embryo donated for research that carried an autosomal dominant mutation in the NF1 gene encoding neurofibromin (c.3739-3742 ∆TTTG). Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The ICM was isolated using laser microsurgery and plated on γ-irradiated human foreskin fibroblasts. Both the derivation and cell line propagation were performed in an animal product-free environment. Pluripotent state and differentiation potential were confirmed by in vitro assays.
authors.affiliation: Stem Cell Laboratories, Division of Women's Health, Faculty of Life Sciences and Medicine, King's College London and Assisted Conception Unit, Guys' Hospital, London, United Kingdom.
authors.forename: Heema
authors.initials: H
authors.lastname: Hewitson
authors.affiliation: Stem Cell Laboratories, Division of Women's Health, Faculty of Life Sciences and Medicine, King's College London and Assisted Conception Unit, Guys' Hospital, London, United Kingdom.
authors.forename: Victoria
authors.initials: V
authors.lastname: Wood
authors.affiliation: Stem Cell Laboratories, Division of Women's Health, Faculty of Life Sciences and Medicine, King's College London and Assisted Conception Unit, Guys' Hospital, London, United Kingdom.
authors.forename: Neli
authors.initials: N
authors.lastname: Kadeva
authors.affiliation: Stem Cell Laboratories, Division of Women's Health, Faculty of Life Sciences and Medicine, King's College London and Assisted Conception Unit, Guys' Hospital, London, United Kingdom.
authors.forename: Glenda
authors.initials: G
authors.lastname: Cornwell
authors.affiliation: Stem Cell Laboratories, Division of Women's Health, Faculty of Life Sciences and Medicine, King's College London and Assisted Conception Unit, Guys' Hospital, London, United Kingdom.
authors.forename: Stefano
authors.initials: S
authors.lastname: Codognotto
authors.affiliation: Stem Cell Laboratories, Division of Women's Health, Faculty of Life Sciences and Medicine, King's College London and Assisted Conception Unit, Guys' Hospital, London, United Kingdom.
authors.forename: Emma
authors.initials: E
authors.lastname: Stephenson
authors.affiliation: Stem Cell Laboratories, Division of Women's Health, Faculty of Life Sciences and Medicine, King's College London and Assisted Conception Unit, Guys' Hospital, London, United Kingdom. Electronic address: dusko.ilic@kcl.ac.uk.
authors.forename: Dusko
authors.initials: D
authors.lastname: Ilic
mesh_terms: D002454:Cell Differentiation; D002478:Cells, Cultured; D004622:Embryo, Mammalian / Q000166:cytology; D005307:Fertilization in Vitro; D006650:Histocompatibility Testing; D000066449:Human Embryonic Stem Cells / Q000166:cytology* / Q000378:metabolism; D006801:Humans; D008856:Microscopy, Fluorescence; D009456:Neurofibromatosis 1 / Q000235:genetics / Q000473:pathology; D025542:Neurofibromin 1 / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000378:metabolism
chemical_list: D025542:Neurofibromin 1; D014157:Transcription Factors