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Induced pluripotent stem cell line heterozygous for p.R2447X mutation in filaggrin: KCLi002-A.
Kolundzic, Nikola; Khurana, Preeti; Devito, Liani; Donne, Matthew; Hobbs, Carl; Jeriha, Jakob; Wong, Xuan Fei Colin Cornelius; Common, John A E; Lane, Ellen Birgitte; Dubrac, Sandrine; Gruber, Robert; Schmuth, Matthias; Mauro, Theodora M; Ilic, Dusko.
Afiliação
  • Kolundzic N; Stem Cell Laboratory, Department of Women and Children's Health, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK; Assisted Conception Unit, Guy's Hospital, London, UK.
  • Khurana P; Stem Cell Laboratory, Department of Women and Children's Health, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK; Assisted Conception Unit, Guy's Hospital, London, UK.
  • Devito L; Stem Cell Laboratory, Department of Women and Children's Health, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK; Assisted Conception Unit, Guy's Hospital, London, UK.
  • Donne M; VitroLabs Inc., San Francisco, CA, USA.
  • Hobbs C; Histology Laboratory, Wolfson Centre for Age-Related Diseases, School of Biomedical Sciences, King's College London, London, UK.
  • Jeriha J; Stem Cell Laboratory, Department of Women and Children's Health, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK; Department of Biology, Biotechnical Faculty, University of Ljubljana, Ljubljana, Slovenia.
  • Wong XFCC; Skin Research Institute of Singapore, A*STAR, Singapore, Singapore.
  • Common JAE; Skin Research Institute of Singapore, A*STAR, Singapore, Singapore.
  • Lane EB; Skin Research Institute of Singapore, A*STAR, Singapore, Singapore.
  • Dubrac S; Department of Dermatology, Venereology and Allergology, Medical University of Innsbruck, Innsbruck, Austria.
  • Gruber R; Department of Dermatology, Venereology and Allergology, Medical University of Innsbruck, Innsbruck, Austria.
  • Schmuth M; Department of Dermatology, Venereology and Allergology, Medical University of Innsbruck, Innsbruck, Austria.
  • Mauro TM; Dermatology Services, Veteran Affairs Medical Center, University of California San Francisco, San Francisco, CA, USA.
  • Ilic D; Stem Cell Laboratory, Department of Women and Children's Health, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK; Assisted Conception Unit, Guy's Hospital, London, UK. Electronic address: dusko.ilic@kcl.ac.uk.
Stem Cell Res ; 38: 101462, 2019 07.
Article em En | MEDLINE | ID: mdl-31103941
ABSTRACT
We have generated an induced pluripotent stem cell (iPSC) line KCLi002-A (iOP107) from a female donor, heterozygous for the loss-of-function mutation p.R2447X in the filaggrin gene (FLG). Epidermal keratinocytes were reprogrammed using non-integrating Sendai virus vectors. The entire process of derivation and expansion of iPSCs were performed under xeno-free culture conditions. Characterization of KCLi002-A line included molecular karyotyping, mutation screening using restriction enzyme digestion Sanger sequencing and next generation sequencing (NGS), whereas pluripotency and differentiation potential were confirmed by expression of associated markers in vitro and in vivo teratoma assay.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas S100 / Mutação de Sentido Incorreto / Células-Tronco Pluripotentes Induzidas / Mutação com Perda de Função / Heterozigoto Limite: Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas S100 / Mutação de Sentido Incorreto / Células-Tronco Pluripotentes Induzidas / Mutação com Perda de Função / Heterozigoto Limite: Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article