Establishment of a non-integrated iPSC line (SDQLCHi043-A) from a male infant with propionic acidemia carrying compound heterozygote mutations in PCCB gene

Zilong Li; Chen Liu; Hongmei Xin; Yuqiang Lv; Min Gao; Jian Ma; Ning Liu; Zhongtao Gai; Yi Liu

Stem Cell Research (Apr 2024)

Establishment of a non-integrated iPSC line (SDQLCHi043-A) from a male infant with propionic acidemia carrying compound heterozygote mutations in PCCB gene

Zilong Li,
Chen Liu,
Hongmei Xin,
Yuqiang Lv,
Min Gao,
Jian Ma,
Ning Liu,
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
Yuqiang Lv: 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
Min 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
Jian Ma: 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
Ning 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
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.
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.

Journal volume & issue: Vol. 76
p. 103352

Abstract

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In this study, peripheral blood mononuclear cells were contributed from a male infant with propionic acidemia (PA) verified by clinical and genetic diagnosis, who inherited compound heterozygous mutations in the propionyl-CoA carboxylase subunit beta (PCCB) gene. Here, this iPS was generated by non-integrated episomal vectors with SOX2, BCL-XL, OCT4, C-MYC and OCT4. Also, this iPSC line exhibited the morphology of pluripotent stem cells, upward mRNA and protein expression of pluripotency markers, conspicuous in vitro differentiation potency and regular karyotype, and carried PCCB gene mutations, which provided an excellent model for the research and drug screening of PA.

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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