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Stem Cell Res. 2019 May 4;38:101455. doi: 10.1016/j.scr.2019.101455. [Epub ahead of print]

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

Author information

1
National Stem Cell Bank-Valencia Node, Proteomics, Genotyping and Cell Line Platform, PRB3, ISCIII, Research Centre Principe Felipe, c/ Eduardo Primo Yúfera 3, 46012, Valencia, Spain.
2
Dept. de Genètica, Microbiologia I Estadística, Facultat de Biologia, Universitat de Barcelona, CIBERER, IBUB-IRSJD, Avda. Diagonal 643, 08028 Barcelona, Spain; DBGen Ocular Genomics, Barcelona, Spain.
3
National Stem Cell Bank-Valencia Node, Proteomics, Genotyping and Cell Line Platform, PRB3, ISCIII, Research Centre Principe Felipe, c/ Eduardo Primo Yúfera 3, 46012, Valencia, Spain; Stem Cells Therapies in Neurodegenerative Diseases Lab, Research Center Principe Felipe, c/Eduardo Primo Yúfera 3, 46012, Valencia, Spain.
4
National Stem Cell Bank-Valencia Node, Proteomics, Genotyping and Cell Line Platform, PRB3, ISCIII, Research Centre Principe Felipe, c/ Eduardo Primo Yúfera 3, 46012, Valencia, Spain; Retinal Degeneration Lab, Research Centre Principe Felipe, c/ Eduardo Primo Yúfera 3, 46012, Valencia, Spain. Electronic address: dlukovic@cipf.es.

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.

PMID:
31082679
DOI:
10.1016/j.scr.2019.101455
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