Khine ZawElaine Y.M. WongXiao ZhangDan ZhangShang Chih ChenJennifer A. ThompsonTina LameyTerri McLarenJohn N. De RoachSteve D. WiltonSue FletcherChalermchai MitrpantMarcus D. AtlasFred K. ChenSamuel McLenachanPerth Children's HospitalUniversity of Western Australia, Centre for Ophthalmology and Visual ScienceThe University of Western AustraliaCurtin UniversityRoyal Perth HospitalSir Charles Gairdner HospitalMurdoch UniversityLions Eye Institute, PerthFaculty of Medicine Siriraj Hospital, Mahidol UniversityEar Science Institute Australia2022-08-042022-08-042021-01-01Stem Cell Research. Vol.50, (2021)18767753187350612-s2.0-85098226078https://repository.li.mahidol.ac.th/handle/20.500.14594/76420Mutations in the USH2A gene are the most common cause of Usher syndrome and autosomal recessive non-syndromic retinitis pigmentosa. Here, we describe the generation of three induced pluripotent stem cell lines from dermal fibroblasts derived from a patient carrying biallelic c.949C > A and c.1256G > T variants in the USH2A gene, using episomal reprogramming plasmids expressing OCT4, SOX2, KLF4, MYCL, LIN28, mir302/367 and shRNA targeting TP53. All three lines expressed pluripotency markers, displayed unaltered karyotypes as well as trilineage differentiation potential, and were negative for reprogramming episomes and mycoplasma.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyGeneration of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A geneArticleSCOPUS10.1016/j.scr.2020.102129