Establishment of an induced pluripotent stem cell line from a Antley-Bixler Syndrome (ABS) patient with the homozygote mutation p.R457H (c.1370G>A) in POR gene


Antley-Bixler syndrome (ABS) is a rare inherited autosome recessive malformation syndrome, which can be caused by the gene mutations of cytochrome P450 oxidoreductase (POR). In this study, the urine cells (UCs) derived from a 5-year-old female ABS patient with the homozygote POR gene mutation p.R457H (c.1825C>G) were reprogramming into induced pluripotent stem cells (iPSCs) named WMUi018-A using a commercial Sendai virus reprogramming kit. The pluripotent markers of stem cells like OCT4 and SOX2 can be positively expressed in this iPSC line, which can be induced to differentiate into three germ layers in vitro and maintain a stable karyotype (46, XX). Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Guo X, Wang D, Shan X, Yang L, Ding Y, Chen H, Rong X, Chu M, Lin J, Chen C
Journal Stem cell research
Publication Date 2021 Apr;52:102261
PubMed 33631521
DOI 10.1016/j.scr.2021.102261

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