Establishment of a novel human iPSC line (SDQLCHi032-A) derived from a patient with primary hypertrophic osteoarthropathy caused by HPGD homozygous mutation

Yue Li; Rui Dong; Guangyu Wang; Haiyan Zhang; Xiaomeng Yang; Zilong Li; Jingyun Guan; Zhongtao Gai; Yi Liu

doi:10.1016/j.scr.2021.102217

Stem Cell Research (Apr 2021)

Establishment of a novel human iPSC line (SDQLCHi032-A) derived from a patient with primary hypertrophic osteoarthropathy caused by HPGD homozygous mutation

Yue Li,
Rui Dong,
Guangyu Wang,
Haiyan Zhang,
Xiaomeng Yang,
Zilong Li,
Jingyun Guan,
Zhongtao Gai,
Yi Liu

Affiliations

Yue Li: Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
Rui Dong: Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
Guangyu Wang: Department of Pediatric Surgery, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
Haiyan Zhang: Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
Xiaomeng Yang: Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
Zilong Li: Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
Jingyun Guan: Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China
Zhongtao Gai: Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China; Corresponding authors.
Yi Liu: Pediatric Research Institute, Qilu Children’s Hospital of Shandong University, Jinan, Shandong 250022, China; Corresponding authors.

DOI: https://doi.org/10.1016/j.scr.2021.102217
Journal volume & issue: Vol. 52
p. 102217

Abstract

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Primary hypertrophic osteoarthropathy, autosomal recessive type 1 (PHOAR1, MIM259100) is caused by mutations in the 15-hydroxyprostaglandin dehydrogenase gene (HPGD, MIM601688) on chromosome 4q34. An induced pluripotent stem cells (iPSCs) line was generated in our lab from peripheral blood mononuclear cells (PBMCs) of a 2-year-7-month-old girl with PHOAR1 carrying a homozygous mutation of c.310_311del in HPGD. The expression of pluripotency markers, absence of episomal vectors, preservation of normal karyotype, the potential of trilineage differentiation in vitro, were confirmed in the obtained iPSCs line.

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.sciencedirect.com/journal/stem-cell-research

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