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Establishment of a human induced pluripotent stem cell line (ABi004-A) carrying a compound heterozygous mutation in the KCNV2 geneстатья
- Авторы: Alsalloum Almaqdad, Shefer Kristina, Bogdanov Pavel, Mingaleva Natalia, Kim Alexander, Feoktistova Sofya, Mityaeva Olga, Volchkov Pavel
- Журнал: Stem Cell Research
- Том: 80
- Год издания: 2024
- Издательство: Elsevier
- Местоположение издательства: United States
- Номер статьи: 103512
- DOI: 10.1016/j.scr.2024.103512
- Аннотация: 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 the pathogenetic mechanism and drug development using in vitro models. PBMCs were established into induced pluripotent stem cells and then characterized by confirming the expression of pluripotency markers, demonstrating the ability to differentiate into the three germ layers, and obtaining normal karyotyping.
- Добавил в систему: Мингалёва Наталья Сергеевна