Establishment of iPS cell line (SDQLCHi061-A) from a patient with carbamoylphosphate synthetase I deficiency due to CPS1 mutation

Jingyun Guan; Li shen; Chen Liu; Yuqiang Lv; Haiyan Zhang; Yi Liu; Zhongtao Gai

Stem Cell Research (Apr 2024)

Establishment of iPS cell line (SDQLCHi061-A) from a patient with carbamoylphosphate synthetase I deficiency due to CPS1 mutation

Jingyun Guan,
Li shen,
Chen Liu,
Yuqiang Lv,
Haiyan Zhang,
Yi Liu,
Zhongtao Gai

Affiliations

Jingyun Guan: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, China
Li shen: Clinical Lab, The Forth Hospital of Jinan, Jinan 250031, China
Chen Liu: Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, China; Department of Neonatology, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan 250022, China
Yuqiang Lv: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, China
Haiyan Zhang: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, China; Corresponding authors.
Yi Liu: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, China; Corresponding authors.
Zhongtao Gai: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, China

Journal volume & issue: Vol. 76
p. 103353

Abstract

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The induced pluripotent stem cells (iPSCs) line was generated using peripheral blood mononuclear cells (PBMCs) from a patient with compound heterozygous mutation of c.2374A > G/p.M792V and c.3949C > T/p.R1317W in the CPS1 gene by non-integrating vectors. The expression of pluripotency markers, potential for in vitro trilineage differentiation and exhibiting normal karyotype were demonstrated in the SDQLCHi061-A cell line. This cell line could provide a useful CPS1D model in vitro for further study.

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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