Generation of the induced pluripotent stem cell line IOCVi001-A from a patient with the MFRP-related retinitis pigmentosa-nanophthalmos syndrome
Summary
Retinitis pigmentosa (RP) is the most common retinal degeneration in humans and is characterized by the progressive degeneration of rods and cones and retinal pigment epithelium. We generated the IOCVi001-A induced pluripotent stem cell (iPSC) line from dermal fibroblast of a patient with a homozygous c.498_499insC (p.(Asn167Glnfs⁎34) variant in the Membrane-type frizzled related protein (MFRP) gene, a genetic defect causing a syndrome characterized by RP and small eye size (nanophthalmos). IOCVi001-A displayed normal stemness, expressed pluripotent stem cell markers and displayed a normal karyotype. This iPSC line can be used for in vitro disease modeling for complex forms of RP. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Mora-Roldan GA, Nava J, Gazarian K, Zenteno JC |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Mar;75:103309 |
| PubMed | 38217995 |
| DOI | 10.1016/j.scr.2024.103309 |