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Updated: Jul 2, 2025

Genome Editing and Directed Differentiation of hPSCs for Interrogating Lineage Determinants in Human Pancreatic Development
Published on: March 5, 2017
Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a
Michelle Hua1, Laura Williams2, Kaylan Burns1
1Department 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.
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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