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Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation.
Hua, Michelle; Williams, Laura; Burns, Kaylan; Liu, Shiying; Ellis, James; Innes, A Micheil; McPherson, Melissa; Yang, Guang.
Affiliation
  • Hua M; Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Canada; Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Canada. Electronic address: michel
  • Williams L; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Canada; Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Canada.
  • Burns K; Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Canada; Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Canada.
  • Liu S; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Canada; Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Canada; Centre for Genome Eng
  • Ellis J; Department of Molecular Genetics, University of Toronto, Canada.
  • Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Canada; Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Canada.
  • McPherson M; Department of Medical Genetics, University of Alberta, Canada.
  • Yang G; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Canada; Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Canada; Hotchkiss Brain Insti
Stem Cell Res ; 76: 103344, 2024 Apr.
Article in En | MEDLINE | ID: mdl-38364506
ABSTRACT
The identification of neurodevelopmental defects in a patient harboring a heterozygous de novo missense variant (NM_006561.4, c.1517G > A, p.Arg506His) within the CELF2 gene. Here, we describe the establishment of a patient-derived induced pluripotent stem cell (iPSC) line, alongside an isogenic gene-corrected iPSC line, achieved through CRISPR/Cas9 genome editing. These lines exhibit the expression of pluripotency markers, demonstrate differentiation potential into all three germ layers, and maintain a normal karyotype. These iPSC lines serve as valuable tools for investigating the consequences of CELF2 related neurodevelopmental disorders.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Induced Pluripotent Stem Cells Limits: Humans Language: En Journal: Stem Cell Res Year: 2024 Document type: Article Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Induced Pluripotent Stem Cells Limits: Humans Language: En Journal: Stem Cell Res Year: 2024 Document type: Article Country of publication: