Generation of a human iPSC line (UCLi025-A) from a patient with PHARC syndrome harbouring biallelic variants in ABHD12

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-01-13 DOI:10.1016/j.scr.2025.103661

Sara Romero-Vázquez , Katy Linkens , Lyes Toualbi , Daniel Jackson , Cécile Méjécase , Henry Houlden , Mariya Moosajee

引用次数: 0

Abstract

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.

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从携带ABHD12双等位基因变异的PHARC综合征患者身上获得人类iPSC细胞系（UCLi025-A）

一种人类诱导多能干细胞（hiPSC）系（UCLi025-A）是由一名患有多发性神经病变、听力丧失、视网膜色素变性和早发性白内障（PHARC）综合征的42岁女性供体的真皮成纤维细胞生成的，该细胞携带abhd12c . 193c [j], p.（Arg65*）。Sanger测序证实成纤维细胞携带该变体，随后使用非整合的episal质粒重新编程，产生hiPSC系（UCLi025-A）。该细胞系的多能性标志物表达、体外分化潜力和正常核型均得到了验证。该细胞系的利用将为建立PHARC综合征模型和确定治疗靶点提供宝贵的资源。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

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