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

doi:10.1016/j.scr.2024.103309

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

Stem Cell Res. 2024 Mar:75:103309. doi: 10.1016/j.scr.2024.103309. Epub 2024 Jan 9.

Authors

German A Mora-Roldan¹, Jessica Nava², Karlen Gazarian³, Juan Carlos Zenteno⁴

Affiliations

¹ 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.
² Posgrado en Ciencias Biológicas, Universidad Nacional Autónoma de México, Mexico; Biochemistry Department, Faculty of Medicine, UNAM, Mexico City, Mexico.
³ Biomedical Research Institute, Department of Genomic Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico.
⁴ Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico; Biochemistry Department, Faculty of Medicine, UNAM, Mexico City, Mexico. Electronic address: jczenteno@institutodeoftalmologia.org.

PMID: 38217995
DOI: 10.1016/j.scr.2024.103309

Abstract

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.

MeSH terms

Humans
Hypopituitarism*
Induced Pluripotent Stem Cells* / metabolism
Membrane Proteins / genetics
Microphthalmos* / genetics
Microphthalmos* / metabolism
Mutation
Retinitis Pigmentosa* / genetics
Retinitis Pigmentosa* / metabolism

Substances

Membrane Proteins
MFRP protein, human

Supplementary concepts

RHYNS syndrome