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

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...

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Bibliographic Details
Main Authors: Michelle Hua, Laura Williams, Kaylan Burns, Shiying Liu, James Ellis, A. Micheil Innes, Melissa McPherson, Guang Yang
Format: Article
Language:English
Published: Elsevier 2024-04-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506124000424

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http://www.sciencedirect.com/science/article/pii/S1873506124000424

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