Generation of two human induced pluripotent stem cell lines (ABi001-A and ABi002-A) from cone dystrophy with supernormal rod response patients caused by KCNV2 mutation

• Published in: Stem cell research 2023-06, Vol.69, p.103099-103099, Article 103099
• Main Authors: Alsalloum, Almaqdad, Mityaeva, Olga, Kegeles, Evgenii, Khavina, Elena, Volchkov, Pavel
• Format: Article
• Language: English
• Subjects: Cone Dystrophy; Humans; Induced Pluripotent Stem Cells; Mutation - genetics; Potassium Channels, Voltage-Gated - genetics; Retinal Rod Photoreceptor Cells
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2023.103099

•A line of induced pluripotent stem cells was created from two patients with a mutation in the KCNV2 gene.•The mutation causes a retinopathy-associated disease (CDSRR).•The lines can be differentiated into an in vitro model for use in gene and cell therapy applications. Cone dystrophy with supernormal rod response (CDSRR) is associated with pathogenic variants of the KCNV2 gene that result in severe symptoms, including color vision defects, decreased visual acuity, and specific changes in electroretinogram responses. Two iPSC lines were obtained from two patients in the same family with different types of mutations in the KCNV2 gene. These lines could serve as a useful model for studying the pathogenetic mechanism and treatment development for CDSRR. PBMCs from donors have been reprogrammed into iPSC lines. Derived clones were characterized with mutation sequencing, analysis of common pluripotency-associated markers at the protein levels, and in vitro differentiation studies.