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Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.
Ortuño-Costela MDC, Cerrada V, Moreno-Izquierdo A, García-Consuegra I, Laberthonnière C, Delourme M, Garesse R, Arenas J, Fuster García C, García García G, Millán JM, Magdinier F, Gallardo ME. Ortuño-Costela MDC, et al. Among authors: moreno izquierdo a. Int J Mol Sci. 2022 Nov 12;23(22):13964. doi: 10.3390/ijms232213964. Int J Mol Sci. 2022. PMID: 36430443 Free PMC article.
Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease.
Ortuño-Costela MDC, Rodríguez-Mancera N, García-López M, Zurita-Díaz F, Moreno-Izquierdo A, Lucía A, Martín MÁ, Garesse R, Gallardo ME. Ortuño-Costela MDC, et al. Among authors: moreno izquierdo a. Stem Cell Res. 2017 Aug;23:188-192. doi: 10.1016/j.scr.2017.07.020. Epub 2017 Jul 28. Stem Cell Res. 2017. PMID: 28925366 Free article.
Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene.
Zurita-Díaz F, Ortuño-Costela MDC, Moreno-Izquierdo A, Galbis L, Millán JM, Ayuso C, Garesse R, Gallardo ME. Zurita-Díaz F, et al. Among authors: moreno izquierdo a. Stem Cell Res. 2018 Aug;31:152-156. doi: 10.1016/j.scr.2018.08.002. Epub 2018 Aug 2. Stem Cell Res. 2018. PMID: 30096711 Free article.
Generation of the iPSC line IISHDOi007-A from peripheral blood mononuclear cells from a patient with McArdle disease harbouring the mutation c.2392 T > C; p.Trp798Arg.
Cerrada V, García-López M, Alvarez-Galeano S, Moreno-Izquierdo A, Lucia A, Rabasa Pérez M, Arenas J, Gallardo ME. Cerrada V, et al. Among authors: moreno izquierdo a. Stem Cell Res. 2020 Dec;49:102108. doi: 10.1016/j.scr.2020.102108. Epub 2020 Dec 3. Stem Cell Res. 2020. PMID: 33370875 Free article.
Generation of a human iPSC line from a patient with Leigh syndrome.
Galera T, Zurita F, González-Páramos C, Moreno-Izquierdo A, Fraga MF, Fernández AF, Garesse R, Gallardo ME. Galera T, et al. Stem Cell Res. 2016 Jan;16(1):63-6. doi: 10.1016/j.scr.2015.12.005. Epub 2015 Dec 12. Stem Cell Res. 2016. PMID: 27345786 Free article.
21 results