Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Department of Pediatric Surgery, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Stem Cell Res. 2021 Apr;52:102217. doi: 10.1016/j.scr.2021.102217. Epub 2021 Feb 1.
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.
常染色体隐性遗传 1 型原发性肥大性骨关节病（PHOAR1，MIM259100）由 4q34 染色体上的 15-羟前列腺素脱氢酶基因（HPGD，MIM601688）突变引起。我们实验室从一名 2 岁 7 个月的 PHOAR1 女孩的外周血单核细胞（PBMCs）中生成了诱导多能干细胞（iPSC）系，该女孩携带 HPGD 中的 c.310_311del 纯合突变。在获得的 iPSC 系中，确认了多能性标记物的表达、无附加体载体、正常核型的保留、体外三系分化的潜能。
