Establishment of a human induced pluripotent stem cell line (WMUi031-A) from a Lowe syndrome patient carrying a OCRL gene mutation (c.2626dupA)

Summary

Lowe Syndrome (LS) is a rare X-linked multisystemic disorder syndrome, which can be caused by the gene mutations of OCRL. In present study, the urine cells (UCs) derived from a 12-year-old male LS patient with the hemizygote OCRL gene mutation p.M876N (c.2626dupA) were reprogrammed into induced pluripotent stem cells (iPSCs) named WMUi031-A through the commercial Sendai virus reprogramming kit. The pluripotent markers OCT4 and SOX2 can be expressed positively in WMUi031-A, which can be differentiated into three germ layers in vitro as well as maintain a stable karyotype (46, XY). Copyright © 2021. Published by Elsevier B.V.

Authors Qian R, Wang L, Chen H, Ding Y, Wang D, Chen C, Chu M, Shan X, Guo X
Journal Stem cell research
Publication Date 2021 Mar 17;53:102294
PubMed 33765594
DOI 10.1016/j.scr.2021.102294

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