Establishment of a transgene-free iPS cell line (SDQLCHi046-A) from a young patient bearing a HDAC8 mutation and suffering from Cornelia de Lange Syndrome

Zilong Li; Chen Liu; Hongmei Xin; Yanan Yang; Yanxin Wang; Shasha Niu; Chunlai Gao; Zhongtao Gai; Yi Liu

Stem Cell Research (Feb 2023)

Establishment of a transgene-free iPS cell line (SDQLCHi046-A) from a young patient bearing a HDAC8 mutation and suffering from Cornelia de Lange Syndrome

Zilong Li,
Chen Liu,
Hongmei Xin,
Yanan Yang,
Yanxin Wang,
Shasha Niu,
Chunlai Gao,
Zhongtao Gai,
Yi Liu

Affiliations

Zilong Li: Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Pediatric Research Institute, Jinan Children's Hospital, Jinan, Shandong 250022, China
Chen Liu: Neonatal Intensive Care Unit, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Neonatal Intensive Care Unit, Jinan Children's Hospital, Jinan, Shandong 250022, China
Hongmei Xin: Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Pediatric Research Institute, Jinan Children's Hospital, Jinan, Shandong 250022, China
Yanan Yang: Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Pediatric Research Institute, Jinan Children's Hospital, Jinan, Shandong 250022, China
Yanxin Wang: Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Pediatric Research Institute, Jinan Children's Hospital, Jinan, Shandong 250022, China
Shasha Niu: Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Pediatric Research Institute, Jinan Children's Hospital, Jinan, Shandong 250022, China
Chunlai Gao: Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Pediatric Research Institute, Jinan Children's Hospital, Jinan, Shandong 250022, China
Zhongtao Gai: Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Pediatric Research Institute, Jinan Children's Hospital, Jinan, Shandong 250022, China; Corresponding authors at: Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China.
Yi Liu: Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Pediatric Research Institute, Jinan Children's Hospital, Jinan, Shandong 250022, China; Corresponding authors at: Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China.

Journal volume & issue: Vol. 66
p. 102984

Abstract

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In this study, peripheral blood mononuclear cells were isolated from a young male patient bearing a histone deacetyl-lase 8 (HDAC8) mutation and suffering from Cornelia de Lange Syndrome verified by clinical and genetic diagnosis. Induced pluripotent stem cells (iPSCs) were established by a non-integrative method, using plasmids carrying OCT4, SOX2, KLF4, BCL-XL and C-MYC. The established iPSCs presented typical pluripotent cells morphology, and expressed pluripotent stem cell markers at the mRNA and protein level. The iPSCs also showed differentiative capacity in vitro, and a normal karyotype. In addition, the established iPSCs still carried the HDAC8 mutation observed in the donor tissue.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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