Generation of gene-corrected human induced pluripotent stem cell lines derived from retinitis pigmentosa patient with Ser331Cysfs*5 mutation in MERTK
Autores de CIPF
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
- Tipo:
- Editorial Material
- Páginas:
- 101341-101341
- PubMed:
- 30612079
Stem Cell Research ELSEVIER SCIENCE BV
Citas Recibidas en Web of Science: 13
Documentos
- No hay documentos
Filiaciones
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