Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling

Vista senzilla d'ítem
dc.contributor.authorBolinches-Amorós, Arantxa
dc.contributor.authorLeón, Marian
dc.contributor.authordel Buey Furió, Verónica
dc.contributor.authorMarfany i Nadal, Gemma
dc.contributor.authorGonzàlez-Duarte, Roser
dc.contributor.authorErceg, Slaven
dc.contributor.authorLukovic, Dunja
dc.date.accessioned2020-06-12T14:31:32Z
dc.date.available2020-06-12T14:31:32Z
dc.date.issued2019-05-01
dc.date.updated2020-06-12T14:31:32Z
dc.description.abstractDermal 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.extent5 p.
dc.format.mimetypeapplication/pdf
dc.identifier.idgrec690027
dc.identifier.issn1873-5061
dc.identifier.urihttps://hdl.handle.net/2445/165342
dc.language.isoeng
dc.publisherElsevier B.V.
dc.relation.isformatofReproducció del document publicat a: https://doi.org/10.1016/j.scr.2019.101455
dc.relation.ispartofStem Cell Research, 2019, vol. 38, p. 101455
dc.relation.urihttps://doi.org/10.1016/j.scr.2019.101455
dc.rightscc-by (c) Bolinches-Amorós, Arantxa et al., 2019
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/es
dc.sourceArticles publicats en revistes (Genètica, Microbiologia i Estadística)
dc.subject.classificationFibroblasts
dc.subject.classificationOftalmopaties
dc.subject.classificationProteïnes quinases
dc.subject.classificationCèl·lules mare
dc.subject.otherFibroblasts
dc.subject.otherOphthalmopathies
dc.subject.otherProtein kinases
dc.subject.otherStem cells
dc.titleGeneration of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion

Fitxers

Paquet original

Mostrant 1 - 1 de 1
Miniatura
Nom:
690027.pdf
Mida:
1.24 MB
Format:
Adobe Portable Document Format
Descarregar

Col·leccions

Articles publicats en revistes (Genètica, Microbiologia i Estadística)