Article
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.
Stem cell research - 1 Apr 2021
Guo Xiaoling, Wang Dexuan, Shan Xiaoou, Yang Liang, Ding Yinjuan, Chen Huihui, Rong Xing, Chu Maoping, Lin Jian, Chen Congde
Abstract excerpt
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...
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