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

Stem cell research - 1 Mar 2024

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

Abstract excerpt

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...

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

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