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https://hdl.handle.net/2445/165342Full metadata record
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Bolinches-Amorós, Arantxa | - |
| dc.contributor.author | León, Marian | - |
| dc.contributor.author | del Buey Furió, Verónica | - |
| dc.contributor.author | Marfany i Nadal, Gemma | - |
| dc.contributor.author | Gonzàlez-Duarte, Roser | - |
| dc.contributor.author | Erceg, Slaven | - |
| dc.contributor.author | Lukovic, Dunja | - |
| dc.date.accessioned | 2020-06-12T14:31:32Z | - |
| dc.date.available | 2020-06-12T14:31:32Z | - |
| dc.date.issued | 2019-05-01 | - |
| dc.identifier.issn | 1873-5061 | - |
| dc.identifier.uri | https://hdl.handle.net/2445/165342 | - |
| dc.description.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. | - |
| dc.format.extent | 5 p. | - |
| dc.format.mimetype | application/pdf | - |
| dc.language.iso | eng | - |
| dc.publisher | Elsevier B.V. | - |
| dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1016/j.scr.2019.101455 | - |
| dc.relation.ispartof | Stem Cell Research, 2019, vol. 38, p. 101455 | - |
| dc.relation.uri | https://doi.org/10.1016/j.scr.2019.101455 | - |
| dc.rights | cc-by (c) Bolinches-Amorós, Arantxa et al., 2019 | - |
| dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es | - |
| dc.source | Articles publicats en revistes (Genètica, Microbiologia i Estadística) | - |
| dc.subject.classification | Fibroblasts | - |
| dc.subject.classification | Oftalmopaties | - |
| dc.subject.classification | Proteïnes quinases | - |
| dc.subject.classification | Cèl·lules mare | - |
| dc.subject.other | Fibroblasts | - |
| dc.subject.other | Ophthalmopathies | - |
| dc.subject.other | Protein kinases | - |
| dc.subject.other | Stem cells | - |
| dc.title | Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling | - |
| dc.type | info:eu-repo/semantics/article | - |
| dc.type | info:eu-repo/semantics/publishedVersion | - |
| dc.identifier.idgrec | 690027 | - |
| dc.date.updated | 2020-06-12T14:31:32Z | - |
| dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
| Appears in Collections: | Articles publicats en revistes (Genètica, Microbiologia i Estadística) | |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| 690027.pdf | 1.27 MB | Adobe PDF | View/Open |
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