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) 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. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Bolinches-Amorós A, León M, Del Buey Furió V, Marfany G, Gonzàlez-Duarte R, Erceg S, Lukovic D
Journal Stem cell research
Publication Date 2019 Jul;38:101455
PubMed 31082679
DOI 10.1016/j.scr.2019.101455

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