Generation of the induced pluripotent stem cell line IOCVi001-A from a patient with the MFRP-related retinitis pigmentosa-nanophthalmos syndrome

German A. Mora-Roldan; Jessica Nava; Karlen Gazarian; Juan Carlos Zenteno

Stem Cell Research (Mar 2024)

Generation of the induced pluripotent stem cell line IOCVi001-A from a patient with the MFRP-related retinitis pigmentosa-nanophthalmos syndrome

German A. Mora-Roldan,
Jessica Nava,
Karlen Gazarian,
Juan Carlos Zenteno

Affiliations

German A. Mora-Roldan: Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico; Biomedical Research Institute, Department of Genomic Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico
Jessica Nava: Posgrado en Ciencias Biológicas, Universidad Nacional Autónoma de México, Mexico; Biochemistry Department, Faculty of Medicine, UNAM, Mexico City, Mexico
Karlen Gazarian: Biomedical Research Institute, Department of Genomic Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico
Juan Carlos Zenteno: Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico; Biochemistry Department, Faculty of Medicine, UNAM, Mexico City, Mexico; Corresponding author.

Journal volume & issue: Vol. 75
p. 103309

Abstract

Read online

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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

About the journal