Establishment of a novel human iPSC line (SDQLCHi032-A) derived from a patient with primary hypertrophic osteoarthropathy caused by HPGD homozygous mutation
Summary
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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Li Y, Dong R, Wang G, Zhang H, Yang X, Li Z, Guan J, Gai Z, Liu Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Apr;52:102217 |
| PubMed | 33550138 |
| DOI | 10.1016/j.scr.2021.102217 |