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Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene.
de Jong S, Koolen L, Vázquez-Domínguez I, de Breuk A, Albert S, Hoyng CB, Katti S, den Hollander AI, Garanto A. de Jong S, et al. Among authors: koolen l. Stem Cell Res. 2022 Jul;62:102797. doi: 10.1016/j.scr.2022.102797. Epub 2022 Apr 30. Stem Cell Res. 2022. PMID: 35526386 Free article.
Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene.
de Jong S, Koolen L, Vázquez-Domínguez I, de Breuk A, Albert S, Hoyng CB, Katti S, den Hollander AI, Garanto A. de Jong S, et al. Among authors: koolen l. Stem Cell Res. 2022 Jul;62:102796. doi: 10.1016/j.scr.2022.102796. Epub 2022 Apr 30. Stem Cell Res. 2022. PMID: 35526389 Free article.
The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.
Vázquez-Domínguez I, Duijkers L, Fadaie Z, Alaerds ECW, Post MA, van Oosten EM, O'Gorman L, Kwint M, Koolen L, Hoogendoorn ADM, Kroes HY, Gilissen C, Cremers FPM, Collin RWJ, Roosing S, Garanto A. Vázquez-Domínguez I, et al. Among authors: koolen l. Cells. 2022 Nov 17;11(22):3640. doi: 10.3390/cells11223640. Cells. 2022. PMID: 36429068 Free PMC article.
23 results