日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Creation of an iPSC-Based Skeletal Muscle Model of McArdle Disease Harbouring the Mutation c.2392T>C (p.Trp798Arg) in the PYGM Gene

基于 iPSC 的 McArdle 病骨骼肌模型的创建,该模型含有 PYGM 基因中的突变 c.2392T>C (p.Trp798Arg)

Victoria Cerrada, Inés García-Consuegra, Joaquín Arenas, M Esther Gallardo

Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

基于iPSC技术构建首个麦卡德尔病人类体外模型

María Del Carmen Ortuño-Costela ,Victoria Cerrada ,Ana Moreno-Izquierdo ,Inés García-Consuegra ,Camille Laberthonnière ,Mégane Delourme ,Rafael Garesse ,Joaquín Arenas ,Carla Fuster García ,Gema García García ,José María Millán ,Frédérique Magdinier ,María Esther Gallardo

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

从患有 McArdle 病且携带突变 c.2392 T > C; p.Trp798Arg 的患者的外周血单核细胞中生成 iPSC 系 IISHDOi007-A

Victoria Cerrada, Marta García-López, Sofía Alvarez-Galeano, Ana Moreno-Izquierdo, Alejandro Lucia, María Rabasa Pérez, Joaquín Arenas, M Esther Gallardo

Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys

衍生人类 DOA iPSC 系 IISHDOi006-A,其 ACO2 基因发生突变:c.1999G>A;p.Glu667Lys

Victoria Cerrada, Marta García-López, Ana Moreno-Izquierdo, Cristina Villaverde, Olga Zurita, Maria Inmaculada Martin-Merida, Joaquín Arenas, Carmen Ayuso, M Esther Gallardo