Article

CRISPR/Cas9-mediated generation of two isogenic <i>CEP290</i> -mutated iPSC lines

2025-04-02

Abstract excerpt

CEP290 is an important human disease gene, as mutations are implicated in a broad spectrum of autosomal recessive ciliopathies, including Leber congenital amaurosis and Joubert, Meckel, Senior-LØken or Bardet Biedl syndromes. To create isogenic mutant human induced pluripotent stem cell (hiPSC) lines for disease modeling, we employed CRISPR/Cas9 to introduce disease-relevant mutations into the control hiPSC line H...

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Literature Corpus work: 1117a802-b238-58b9-9040-809adfa93bef
DOI: 10.1101/2025.03.31.646311

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