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Knockout of the CEP290 gene in human induced pluripotent stem cells

Joseph Fogerty1, Brian D Perkins1

  • 1Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA.

Stem Cell Research
|February 24, 2021
PubMed

Insights

Researchers created a new stem cell line lacking CEP290, a key protein in primary cilia. This tool aids in studying ciliopathies caused by CEP290 gene mutations.

Area of Science:

  • Cell Biology
  • Genetics
  • Developmental Biology

Background:

  • CEP290 is crucial for primary cilium function and ciliated cell health.
  • Mutations in CEP290 are associated with diverse ciliopathies, but genotype-phenotype correlations are unclear.

Purpose of the Study:

  • To generate a cellular model for investigating CEP290-related disorders.
  • To create a CEP290-null induced pluripotent stem cell (iPSC) line.

Main Methods:

  • CRISPR/Cas9 gene editing was employed to target the CEP290 gene.
  • Induced pluripotent stem cells (iPSCs) were generated and characterized.

Main Results:

  • A novel iPSC line with undetectable CEP290 expression was successfully created.
  • The generated iPSC line maintained a normal karyotype and differentiation capacity.

Conclusions:

  • This CEP290-null iPSC line provides a valuable resource for studying ciliopathies.
  • It facilitates research into the functional consequences of CEP290 loss in human cells.

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