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

  • Stem Cell Res. 2021 Apr:52:102217. doi: 10.1016/j.scr.2021.102217.
Yue Li  1 ,  Rui Dong  1 ,  Guangyu Wang  2 ,  Haiyan Zhang  1 ,  Xiaomeng Yang  1 ,  Zilong Li  1 ,  Jingyun Guan  1 ,  Zhongtao Gai  1 ,  Yi Liu  3
Affiliations
  • 1. Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
  • 2. Department of Pediatric Surgery, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
  • 3. Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Electronic address: [email protected].
PMID: 33550138 DOI: 10.1016/j.scr.2021.102217
Abstract

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.

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