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


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. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors McLenachan S, Wong EYM, Zhang X, Leith F, Moon SY, Zhang D, Chen SC, Thompson JA, McLaren T, Lamey T, De Roach JN, Atlas MD, Dilley RJ, Chen FK
Journal Stem cell research
Publication Date 2019 Apr;36:101420
PubMed 30904819
DOI 10.1016/j.scr.2019.101420

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