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http://hdl.handle.net/2445/165342| Title: | Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling |
| Author: | Bolinches-Amorós, Arantxa León, Marian del Buey Furió, Verónica Marfany i Nadal, Gemma Gonzàlez-Duarte, Roser Erceg, Slaven Lukovic, Dunja |
| Keywords: | Fibroblasts Oftalmopaties Proteïnes quinases Cèl·lules mare Fibroblasts Ophthalmopathies Protein kinases Stem cells |
| Issue Date: | 1-May-2019 |
| Publisher: | Elsevier B.V. |
| Abstract: | Dermal fibroblasts from an autosomal recessive retinitis pigmentosa (RP) patient, homozygous for the mutation c.769 C>T, p.Arg257Ter, in CERKL (Ceramide Kinase-Like) gene, and a healthy sibling were derived and reprogrammed by Sendai virus. The generated human induced pluripotent stem cell (hiPSC) lines RP3-FiPS4F1 and Ctrl3-FiPS4F1, were free of genomically integrated reprogramming genes, showed stable karyotypes, expressed pluripotency markers and could be differentiated towards the three germ layers in vitro. These hiPSC lines offer a useful resource to study RP pathomechanisms, drug testing and therapeutic opportunities. |
| Note: | Reproducció del document publicat a: https://doi.org/10.1016/j.scr.2019.101455 |
| It is part of: | Stem Cell Research, 2019, vol. 38, p. 101455 |
| URI: | http://hdl.handle.net/2445/165342 |
| Related resource: | https://doi.org/10.1016/j.scr.2019.101455 |
| ISSN: | 1873-5061 |
| Appears in Collections: | Articles publicats en revistes (Genètica, Microbiologia i Estadística) |
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| 690027.pdf | 1.27 MB | Adobe PDF | View/Open |
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