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


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

Research Projects

Cell Lines