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Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22).
Ozgoren, Oguz K; Sequiera, Glen Lester; Ferrari Bardile, Costanza; Gjervan, Sophia C; Salman, Areesha; Lehman, Anna; Turvey, Stuart E; Ross, Colin J D; Stockler, Sylvia; Pouladi, Mahmoud A.
Afiliación
  • Ozgoren OK; Centre for Molecular Medicine and Therapeutics, Djavad Mowafaghian Centre for Brain Health, British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver V5Z 4H4, Canada; Department of Medical Genetics, The University of British Columbia, Vancouver, British Colum
  • Sequiera GL; Centre for Molecular Medicine and Therapeutics, Djavad Mowafaghian Centre for Brain Health, British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver V5Z 4H4, Canada; Department of Medical Genetics, The University of British Columbia, Vancouver, British Colum
  • Ferrari Bardile C; Centre for Molecular Medicine and Therapeutics, Djavad Mowafaghian Centre for Brain Health, British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver V5Z 4H4, Canada; Department of Medical Genetics, The University of British Columbia, Vancouver, British Colum
  • Gjervan SC; Centre for Molecular Medicine and Therapeutics, Djavad Mowafaghian Centre for Brain Health, British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver V5Z 4H4, Canada; Department of Medical Genetics, The University of British Columbia, Vancouver, British Colum
  • Salman A; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.
  • Lehman A; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.
  • Turvey SE; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Ross CJD; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.
  • Stockler S; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Pouladi MA; Centre for Molecular Medicine and Therapeutics, Djavad Mowafaghian Centre for Brain Health, British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver V5Z 4H4, Canada; Department of Medical Genetics, The University of British Columbia, Vancouver, British Colum
Stem Cell Res ; 71: 103174, 2023 09.
Article en En | MEDLINE | ID: mdl-37531724
ABSTRACT
Hypomyelinating Leukodystrophy 22 (HLD22) is caused by a stoploss mutation in CLDN11. To study the molecular mechanisms underlying HLD22, human induced pluripotent stem cells (hiPSCs) were generated from patient fibroblasts carrying the stop-loss mutation in CLDN11.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Línea Celular / Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias / Células Madre Pluripotentes Límite: Child / Humans / Male Idioma: En Revista: Stem Cell Res Año: 2023 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Línea Celular / Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias / Células Madre Pluripotentes Límite: Child / Humans / Male Idioma: En Revista: Stem Cell Res Año: 2023 Tipo del documento: Article