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Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene.
Driver, Karrison; Vo, Christina; Scriba, Carolin K; Saker, Safaa; Larmonier, Thierry; Malfatti, Edoardo; Romero, Norma B; Ravenscroft, Gianina; Laing, Nigel G; Taylor, Rhonda L; Clayton, Joshua S.
Afiliação
  • Driver K; 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.
  • 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.
  • 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.
  • 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.
Stem Cell Res ; 73: 103258, 2023 12.
Article em En | MEDLINE | ID: mdl-38029555
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Miopatia da Parte Central / Células-Tronco Pluripotentes Induzidas Limite: Adult / Humans / Male Idioma: En Revista: Stem Cell Res Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Austrália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Miopatia da Parte Central / Células-Tronco Pluripotentes Induzidas Limite: Adult / Humans / Male Idioma: En Revista: Stem Cell Res Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Austrália