Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation
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...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-04-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124000424 |
| _version_ | 1797305316859183104 |
|---|---|
| author | Michelle Hua Laura Williams Kaylan Burns Shiying Liu James Ellis A. Micheil Innes Melissa McPherson Guang Yang |
| author_facet | Michelle Hua Laura Williams Kaylan Burns Shiying Liu James Ellis A. Micheil Innes Melissa McPherson Guang Yang |
| author_sort | Michelle Hua |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-08T00:24:09Z |
| format | Article |
| id | doaj.art-b82d3ee94943488eba352092dc28c0df |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-03-08T00:24:09Z |
| publishDate | 2024-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-b82d3ee94943488eba352092dc28c0df2024-02-16T04:28:55ZengElsevierStem Cell Research1873-50612024-04-0176103344Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutationMichelle Hua0Laura Williams1Kaylan Burns2Shiying Liu3James Ellis4A. Micheil Innes5Melissa McPherson6Guang Yang7Department 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.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, CanadaDepartment 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, CanadaDepartment 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, CanadaDepartment of Molecular Genetics, University of Toronto, CanadaDepartment 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, CanadaDepartment of Medical Genetics, University of Alberta, CanadaDepartment 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.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.http://www.sciencedirect.com/science/article/pii/S1873506124000424 |
| spellingShingle | Michelle Hua Laura Williams Kaylan Burns Shiying Liu James Ellis A. Micheil Innes Melissa McPherson Guang Yang Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation Stem Cell Research |
| title | Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation |
| title_full | Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation |
| title_fullStr | Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation |
| title_full_unstemmed | Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation |
| title_short | Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation |
| title_sort | generation and characterization of a human ipsc line and gene corrected isogenic line derived from a patient with a celf2 gene mutation |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124000424 |
| work_keys_str_mv | AT michellehua generationandcharacterizationofahumanipsclineandgenecorrectedisogeniclinederivedfromapatientwithacelf2genemutation AT laurawilliams generationandcharacterizationofahumanipsclineandgenecorrectedisogeniclinederivedfromapatientwithacelf2genemutation AT kaylanburns generationandcharacterizationofahumanipsclineandgenecorrectedisogeniclinederivedfromapatientwithacelf2genemutation AT shiyingliu generationandcharacterizationofahumanipsclineandgenecorrectedisogeniclinederivedfromapatientwithacelf2genemutation AT jamesellis generationandcharacterizationofahumanipsclineandgenecorrectedisogeniclinederivedfromapatientwithacelf2genemutation AT amicheilinnes generationandcharacterizationofahumanipsclineandgenecorrectedisogeniclinederivedfromapatientwithacelf2genemutation AT melissamcpherson generationandcharacterizationofahumanipsclineandgenecorrectedisogeniclinederivedfromapatientwithacelf2genemutation AT guangyang generationandcharacterizationofahumanipsclineandgenecorrectedisogeniclinederivedfromapatientwithacelf2genemutation |