Generation of a human iPSC line (UCLi025-A) from a patient with PHARC syndrome harbouring biallelic variants in ABHD12
Summary
A human induced pluripotent stem cell (hiPSC) line (UCLi025-A) was generated from dermal fibroblast cells from a 42-year-old female donor with polyneuropathy, hearing loss, retinitis pigmentosa and early-onset cataract (PHARC) syndrome carrying a homozygous nonsense variant in ABHD12 c.193C>T, p.(Arg65*). Fibroblasts were confirmed to carry the variant by Sanger sequencing and subsequently reprogrammed using non-integrating episomal plasmids generating a hiPSC line (UCLi025-A). This established cell line was validated for pluripotency markers expression, in vitro differentiation potential and normal karyotype. The utilization of this cell line will serve as a valuable resource for modelling PHARC syndrome and identification of therapeutic targets. Copyright © 2025. Published by Elsevier B.V.
| Authors | Romero-Vázquez S, Linkens K, Toualbi L, Jackson D, Méjécase C, Houlden H, Moosajee M |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Jan 13;83:103661 |
| PubMed | 39826350 |
| DOI | 10.1016/j.scr.2025.103661 |