Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation

Michelle Hua; Laura Williams; Kaylan Burns; Shiying Liu; James Ellis; A. Micheil Innes; Melissa McPherson; Guang Yang

Stem Cell Research (Apr 2024)

Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation

Michelle Hua,
Laura Williams,
Kaylan Burns,
Shiying Liu,
James Ellis,
A. Micheil Innes,
Melissa McPherson,
Guang Yang

Affiliations

Michelle Hua: 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; Corresponding authors.
Laura Williams: 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
Kaylan Burns: 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
Shiying Liu: 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 Engineering, Cumming School of Medicine, University of Calgary, Canada
James Ellis: Department of Molecular Genetics, University of Toronto, Canada
A. Micheil Innes: 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
Melissa McPherson: Department of Medical Genetics, University of Alberta, Canada
Guang Yang: 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 Institute, Cumming School of Medicine, University of Calgary, Canada; Owerko Centre, University of Calgary, Canada; Corresponding authors.

Journal volume & issue: Vol. 76
p. 103344

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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