Wu, JianboHunt, Samuel DMatthias, NadineServián-Morilla, EmiliaLo, JonathanJafar-Nejad, HamedParadas, CarmenDarabi, Radbod2023-01-252023-01-252017-09-01http://hdl.handle.net/10668/11686Recently, a new type of limb-girdle muscular dystrophy (LGMD type 2Z) has been identified due to a missense mutation in POGLUT1 (protein O-glucosyltransferase-Rumi), an enzyme capable of adding glucose to a distinct serine residue of epidermal growth factor-like repeats containing a C-X-S-X-(P/A)-C consensus sequence such as Notch receptors. Affected patients demonstrate reduced Notch signaling, decreased muscle stem cell pool and hypoglycosylation of α-dystroglycan, leading to LGMD phenotype. Here we report the generation and characterization of an iPSC line (CSCRMi001-A) from a LGMD-2Z patient with missense mutation in POGLUT1 which can be used for in vitro disease modeling.enAttribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/AdultCell LineGlucosyltransferasesHumansInduced Pluripotent Stem CellsMaleMuscular Dystrophies, Limb-GirdleMutationMutation, Missenseresearch article29034878open access10.1016/j.scr.2017.08.0201876-7753PMC5679726https://doi.org/10.1016/j.scr.2017.08.020https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5679726/pdf