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Article

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 - 1 Apr 2024

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

Abstract excerpt

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...

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Identifiers

PMID: 38364506
DOI: 10.1016/j.scr.2024.103344

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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