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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Bibliographic Details
Published in:Stem cell research 2019-07, Vol.38, p.101455-101455, Article 101455
Main Authors: Bolinches-Amorós, Arantxa, León, Marian, del Buey Furió, Verónica, Marfany, Gemma, Gonzàlez-Duarte, Roser, Erceg, Slaven, Lukovic, Dunja
Format: Article
Language:English
Subjects:
Amino Acid Substitution
Cell Line
Homozygote
Humans
Induced Pluripotent Stem Cells - enzymology
Induced Pluripotent Stem Cells - pathology
Mutation, Missense
Phosphotransferases (Alcohol Group Acceptor) - genetics
Phosphotransferases (Alcohol Group Acceptor) - metabolism
Retinitis Pigmentosa - enzymology
Retinitis Pigmentosa - genetics
Retinitis Pigmentosa - pathology
Siblings
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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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2019.101455