| Autor: |
Ana Artero Castro, Kathleen Long, Andrew Bassett, Candela Machuca, Marian León, Almudena Ávila-Fernandez, Marta Cortón, Toni Vidal-Puig, Carmen Ayuso, Dunja Lukovic, Slaven Erceg |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 34, Iss , Pp - (2019) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2018.11.003 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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