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Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene.
Clayton, Joshua S; Suleski, Isabella; Vo, Christina; Smith, Robert; Scriba, Carolin K; Saker, Safaa; Larmonier, Thierry; Malfatti, Edoardo; Romero, Norma B; Houweling, Peter J; Nowak, Kristen J; Ravenscroft, Gianina; Laing, Nigel G; Taylor, Rhonda L.
Afiliação
  • Clayton JS; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia. Electronic address: joshua.clayton@perkins.org.au.
  • Suleski I; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia.
  • Vo C; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia.
  • Smith R; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia.
  • Scriba CK; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia; Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands,
  • Saker S; Genethon, DNA and Cell bank, 91000 Evry, France.
  • Larmonier T; Genethon, DNA and Cell bank, 91000 Evry, France.
  • Malfatti E; APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, France; Université Paris Est, U955, INSERM, IMRB, F-94010 Créteil, France.
  • Romero NB; Sorbonne Université, Myology Institute, Neuromuscular Morphology Unit, Center for Research in Myology, GH Pitié-Salpêtrière, Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Houweling PJ; Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Pediatrics, University of Melbourne, Victoria, Australia.
  • Nowak KJ; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia; Office of Population Health Genomics, Public and Aboriginal Health Division, Western Australian Department of Health, East Perth, WA, Australia; Faculty of Health and Medical Sciences, School
  • Ravenscroft G; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia.
  • Laing NG; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia.
  • Taylor RL; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia.
Stem Cell Res ; 63: 102829, 2022 08.
Article em En | MEDLINE | ID: mdl-35728439
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias da Nemalina / Células-Tronco Pluripotentes Induzidas Limite: Child, preschool / Female / Humans / Infant / Newborn Idioma: En Revista: Stem Cell Res Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias da Nemalina / Células-Tronco Pluripotentes Induzidas Limite: Child, preschool / Female / Humans / Infant / Newborn Idioma: En Revista: Stem Cell Res Ano de publicação: 2022 Tipo de documento: Article