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Establishment of a human induced pluripotent stem cell line (ABi004-A) carrying a compound heterozygous mutation in the KCNV2 gene.

Stem cell research - 1 Oct 2024

Alsalloum Almaqdad, Shefer Kristina, Bogdanov Pavel, Mingaleva Natalia, Kim Alexander, Feoktistova Sofya, Mityaeva Olga, Volchkov Pavel

Abstract excerpt

Pathogenic variants in the KCNV2 gene can cause a rare retinal dystrophy that can be inherited recessively, known as cone dystrophy with supernormal rod response (CDSRR). CDSRR leads to specific changes in photoreceptors' electroretinogram response, especially in the rods, poor visual acuity, photophobia, and even maculopathy. The derived iPSC lines from patients with CDSRR may pave the way for apprehension of...

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Cell Differentiation
Cell Line
Heterozygote
Induced Pluripotent Stem Cells
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Potassium Channels, Voltage-Gated

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PMID: 39083856
DOI: 10.1016/j.scr.2024.103512

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Establishment of a human induced pluripotent stem cell line (ABi004-A) carrying a compound heterozygous mutation in the KCNV2 gene.PMID 39083856Read ↗

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