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

Bolinches-Amorós, ArantxaLeón, Mariandel Buey Furió, VerónicaMarfany i Nadal, GemmaGonzàlez-Duarte, RoserErceg, SlavenLukovic, Dunja2020-06-122020-06-122019-05-011873-5061https://hdl.handle.net/2445/165342Dermal 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.5 p.application/pdfengcc-by (c) Bolinches-Amorós, Arantxa et al., 2019http://creativecommons.org/licenses/by/3.0/esFibroblastsOftalmopatiesProteïnes quinasesCèl·lules mareFibroblastsOphthalmopathiesProtein kinasesStem cellsGeneration of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy siblinginfo:eu-repo/semantics/article6900272020-06-12info:eu-repo/semantics/openAccess