UCLi025-A hiPSC line

Published: 10 May 2024| Version 1 | DOI: 10.17632/knr3ctxj8d.1
Sara Romero


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 derived from a skin biopsy were confirmed to carry the variant by Sanger sequencing and subsequently reprogrammed using non-integrating episomal plasmids generating a human induced pluripotent stem cell (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, identification of therapeutic targets, and conducting drug screening.



University College London


Neurodegenerative Disorder, Induced Pluripotent Stem Cell, Retinal Disease