title: Generation of KCL018 research grade human embryonic stem cell line carrying a mutation in the DMPK gene.
abstract: The KCL018 human embryonic stem cell line was derived from an embryo donated for research that carried an autosomal dominant mutation affecting one allele of the DMPK gene encoding the dystrophia myotonica protein kinase (2200 trinucleotide repeats; 14 for the normal allele). 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: Cristian
authors.initials: C
authors.lastname: Miere
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: Liani
authors.initials: L
authors.lastname: Devito
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: D000483:Alleles; D002454:Cell Differentiation; D002478:Cells, Cultured; D065150:Cellular Reprogramming; D055028:Comparative Genomic Hybridization; D004622:Embryo, Mammalian / Q000166:cytology; D058732:Embryoid Bodies / Q000166:cytology; D005260:Female; D005307:Fertilization in Vitro; D005838:Genotype; D000066449:Human Embryonic Stem Cells / Q000166:cytology* / Q000378:metabolism; D006801:Humans; D059785:Karyotype; D008856:Microscopy, Fluorescence; D009223:Myotonic Dystrophy / Q000235:genetics / Q000473:pathology; D065636:Myotonin-Protein Kinase / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: C585517:DMPK protein, human; D014157:Transcription Factors; D065636:Myotonin-Protein Kinase