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Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1.
Dillen L, Fatima N, Hommersom MP, Çepni E, Fatima F, van Beusekom E, Albert S, van Hagen JM, de Vries BBA, Khan AA, de Brouwer APM, van Bokhoven H. Dillen L, et al. Among authors: albert s. Stem Cell Res. 2024 Jun;77:103442. doi: 10.1016/j.scr.2024.103442. Epub 2024 May 9. Stem Cell Res. 2024. PMID: 38739972 Free article.
Generation and characterization of human induced pluripotent stem cells (iPSCs) from three patients with age-related macular degeneration carrying rare variants in the CFH gene.
Koolen L, Gagliardi G, Ten Brink SCA, de Breuk A, Heesterbeek TJ, Hoyng CB, Albert S, den Hollander AI. Koolen L, et al. Among authors: albert s. Stem Cell Res. 2022 Apr;60:102669. doi: 10.1016/j.scr.2022.102669. Epub 2022 Jan 15. Stem Cell Res. 2022. PMID: 35063911 Free article.
Generation of induced pluripotent stem cell lines carrying monoallelic (UCSFi001-A-60) or biallelic (UCSFi001-A-61; UCSFi001-A-62) frameshift variants in CACNA1A using CRISPR/Cas9.
Hommersom MP, Bijnagte-Schoenmaker C, Albert S, van de Warrenburg BPC, Nadif Kasri N, van Bokhoven H. Hommersom MP, et al. Among authors: albert s. Stem Cell Res. 2022 May;61:102730. doi: 10.1016/j.scr.2022.102730. Epub 2022 Feb 26. Stem Cell Res. 2022. PMID: 35286975 Free article.
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: albert s. 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: albert s. 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.
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.
Khan M, Arno G, Fakin A, Parfitt DA, Dhooge PPA, Albert S, Bax NM, Duijkers L, Niblock M, Hau KL, Bloch E, Schiff ER, Piccolo D, Hogden MC, Hoyng CB, Webster AR, Cremers FPM, Cheetham ME, Garanto A, Collin RWJ. Khan M, et al. Among authors: albert s. Mol Ther Nucleic Acids. 2020 Sep 4;21:412-427. doi: 10.1016/j.omtn.2020.06.007. Epub 2020 Jun 12. Mol Ther Nucleic Acids. 2020. PMID: 32653833 Free PMC article.
1,140 results