Establishment of a non-integrate iPS cell line CSUASOi002-A, from urine-derived cells of a female patient with macular corneal dystrophy carrying compound heterozygous CHST6 mutations


We report the human induced pluripotent stem cell line (iPSC) CSUASOi002-A, generated from urine-derived cells (UCs) from a 51-year-old female patient carrying compound heterozygous mutations (c.62_63delTinsGA and c.C892T) in the carbohydrate sulfotransferase 6 gene (CHST6). This patient was from a Chinese family of three siblings with macular corneal dystrophy (MCD). Patient UCs were reprogrammed by electroporation using the episomal plasmids (OCT4, SOX2, KLF4, l-MYC, LIN28 and shP53). The human MCD-UiPS cell line CSUASOi002-A retained the disease-associated genotype, while expressed pluripotent stem cell markers and could be differentiated into cells of all three germ layers. Copyright © 2019 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Jing Y, Zhou Y, Wang C, Liu J, Guo Y, Mao S, Chan HF, Tang S, Chen J
Journal Stem cell research
Publication Date 2019 Dec;41:101598
PubMed 31669782
DOI 10.1016/j.scr.2019.101598

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