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.

Abstract

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).

• Authors: Xiaoling Guo, Dexuan Wang, Xiaoou Shan, Liang Yang, Yinjuan Ding, Huihui Chen, Xing Rong, Maoping Chu, Jian Lin, Congde Chen
• Journal: Stem cell research (Stem Cell Res) Vol. 52 Pg. 102261 (04 2021) ISSN: 1876-7753 [Electronic] England
• PMID: 33631521 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Topics

• Abnormalities, Multiple
• Antley-Bixler Syndrome Phenotype
• Child, Preschool
• Female
• Homozygote
• Humans
• Induced Pluripotent Stem Cells
• Mutation