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Generation of two induced pluripotent stem cell lines from an Usher syndrome type 1B patient with the homozygous c.496del MYO7A variant.
Wong, Elaine Y M; Khoh, Xin E; Chen, Shang-Chih; Lye, Joey; Leith, Fiona K; Zhang, Dan; Lamey, Tina M; Thompson, Jennifer A; McLaren, Terri L; Atlas, Marcus D; Chen, Fred K; McLenachan, Samuel.
Afiliação
  • Wong EYM; Ear Science Institute Australia, Nedlands, Western Australia, Australia; Curtin Medical School, Faculty of Health Sciences, Curtin University, Bentley, Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, Western Australia, Australia.
  • Khoh XE; Ear Science Institute Australia, Nedlands, Western Australia, Australia; School of Human Sciences, The University of Western Australia, Nedlands, Western Australia, Australia.
  • Chen SC; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia.
  • Lye J; Ear Science Institute Australia, Nedlands, Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, Western Australia, Australia.
  • Leith FK; Ear Science Institute Australia, Nedlands, Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, Western Australia, Australia.
  • Zhang D; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia.
  • Lamey TM; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
  • Thompson JA; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
  • McLaren TL; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
  • Atlas MD; Ear Science Institute Australia, Nedlands, Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, Western Australia, Australia.
  • Chen FK; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medi
  • McLenachan S; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia. Electronic address: samuel.mclenachan@lei.org.au.
Stem Cell Res ; 79: 103492, 2024 Sep.
Article em En | MEDLINE | ID: mdl-39013239
ABSTRACT
Usher syndrome (USH) is the most common cause of inherited deaf-blindness. Here, we produced the LEIi020-A and LEIi020-B induced pluripotent stem cell (iPSC) lines from dermal fibroblasts derived from a patient with USH1B caused by inheritance of homozygous c.496del variants in MYO7A using episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for TP53. Both iPSC lines expressed pluripotency markers, demonstrated trilineage differentiation potential and displayed a 46,XY karyotype. These cell lines represent a valuable resource for the production of retinal and otic tissues to support research into the pathogenesis and treatment of USH1B.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes de Usher / Células-Tronco Pluripotentes Induzidas / Miosina VIIa / Fator 4 Semelhante a Kruppel / Homozigoto Limite: Humans / Male Idioma: En Revista: Stem Cell Res / Stem cell research (Online) Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Austrália
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes de Usher / Células-Tronco Pluripotentes Induzidas / Miosina VIIa / Fator 4 Semelhante a Kruppel / Homozigoto Limite: Humans / Male Idioma: En Revista: Stem Cell Res / Stem cell research (Online) Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Austrália