Generation of gene-corrected human induced pluripotent stem cell lines derived from retinitis pigmentosa patient with Ser331Cysfs*5 mutation in MERTK

Fecha de publicación: Fecha Ahead of Print:

Autores de CIPF

  • Ana Artero Castro

    Autor

  • Candela Machuca Arellano

    Autor

  • Mª Angeles Leon Rodríguez

    Autor

  • Dunja Lukovic

    Autor

Participantes ajenos a CIPF

  • Long K
  • Bassett A
  • Ávila-Fernandez A
  • Cortón M
  • Vidal-Puig T
  • Ayuso C

Grupos de Investigación

Abstract

The human induced pluripotent stem cell (hiPSC) line RP1-FiPS4F1 generated from the patient with autosomal recessive retinitis pigmentosa (arRP) caused by homozygous Ser331Cysfs*5 mutation in Mer tyrosine kinase receptor (MERTK) was genetically corrected using CRISPR/Cas9 system. Two isogenic hiPSCs lines, with heterozygous and homozygous correction of c.992_993delCA mutation in the MERTK gene were generated. These cell lines demonstrate normal karyotype, maintain a pluripotent state, and can differentiate toward three germ layers in vitro. These genetically corrected hiPSCs represent accurate controls to study the contribution of the specific genetic change to the disease, and potentially therapeutic material for cell-replacement therapy.

Datos de la publicación

ISSN/ISSNe:
1873-5061, 1876-7753

Stem Cell Research  ELSEVIER SCIENCE BV

Tipo:
Editorial Material
Páginas:
101341-101341
PubMed:
30612079

Citas Recibidas en Web of Science: 13

Documentos

  • No hay documentos

Métricas

Filiaciones mostrar / ocultar

Campos de Estudio

Compartir