Generation of two induced pluripotent stem cell lines from a patient with compound heterozygous mutations in the USH2A gene

Dan Zhang,Shang-Chih Chen,Rodney J Dilley,Fiona Leith,Tina Lamey,Terri Mclaren,Sang Yoon Moon,Fred K Chen,John N De Roach,Elaine Y.M Wong,Jennifer A Thompson,Samuel Mclenachan,Marcus D Atlas,Xiao Zhang

doi:10.1016/j.scr.2019.101420

Generation of two induced pluripotent stem cell lines from a patient with compound heterozygous mutations in the USH2A gene

Dan Zhang, Shang-Chih Chen + Show 12 more

Open Access

https://doi.org/10.1016/j.scr.2019.101420

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Journal: Stem Cell Research	Publication Date: Mar 16, 2019
Citations: 4	License type: cc-by-nc-nd

Affiliation: Lions Eye Institute, Ear Science Institute Australia, University of Western Australia, Sir Charles Gairdner Hospital, Royal Perth Hospital, Curtin University

#Mutations In USH2A #shRNA For P53 + Show 8 more

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Abstract

The human iPSC lines LEIi010-A and LEIi010-B were generated from the dermal fibroblasts of a patient with Usher syndrome using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53. These iPSC lines carry compound heterozygous mutations (c.949C > A and c.1256G > T) in USH2A. LEIi010-A and LEIi010-B expressed pluripotent stem cell markers, had a normal karyotype and could be differentiated into endoderm, mesoderm and ectodermal lineages.

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