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

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...

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Published inStem cell research Vol. 38; p. 101455
Main Authors Bolinches-Amorós, Arantxa, León, Marian, del Buey Furió, Verónica, Marfany, Gemma, Gonzàlez-Duarte, Roser, Erceg, Slaven, Lukovic, Dunja
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.07.2019
Elsevier
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Summary: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.
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ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2019.101455