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