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
Summary
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 |