title: Generation of KCL026 research grade human embryonic stem cell line carrying a mutation in SMN1 gene.
abstract: The KCL026 human embryonic stem cell line was derived from an embryo donated for research that carried a mutation in the SMN1 gene encoding survival of motor neuron 1, telomeric (exons 7 and 8 deletion). Mutations in this gene are associated with spinal muscular atrophy. 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; D005091:Exons; D005307:Fertilization in Vitro; D017353:Gene Deletion; D000066449:Human Embryonic Stem Cells / Q000166:cytology* / Q000378:metabolism; D006801:Humans; D008297:Male; D008856:Microscopy, Fluorescence; D010375:Pedigree; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics*; D014157:Transcription Factors / Q000378:metabolism
chemical_list: C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein; D014157:Transcription Factors