Stem cell research

Creating and validating patient stem cell lines with and without a specific RD3 gene mutation linked to Leber Congenital Amaurosis type 12

CRISPR Gene Editing Weekly Brief ↗PubMed ↗DOI ↗

Updated

Abstract

A patient-specific iPSC line (LVPEIi006-B) was generated for Leber congenital amaurosis, Type 12.

  • Leber congenital amaurosis, Type 12 is an early onset retinal disease linked to mutations in RD3.
  • An isogenic, mutation-corrected iPSC line (LVPEIi006-B-1) was created using an adenine base editor system.
  • Both iPSC lines were confirmed to possess the patient-specific mutation and the intended genetic correction.
  • The iPSC lines maintained characteristics of stem cells and could successfully differentiate into retinal organoids.
  • Retinal organoids derived from the mutation-corrected iPSCs showed a partial restoration of normal RD3 mRNA splicing.

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Funding

Competing interests

Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
PubMed

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