Sara Romero-Vázquez , Katy Linkens , Lyes Toualbi , Daniel Jackson , Cécile Méjécase , Henry Houlden , Mariya Moosajee
{"title":"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）","authors":"Sara Romero-Vázquez , Katy Linkens , Lyes Toualbi , Daniel Jackson , Cécile Méjécase , Henry Houlden , Mariya Moosajee","doi":"10.1016/j.scr.2025.103661","DOIUrl":null,"url":null,"abstract":"<div><div>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 <em>ABHD12</em> 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, <em>in vitro</em> 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.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103661"},"PeriodicalIF":0.8000,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Generation of a human iPSC line (UCLi025-A) from a patient with PHARC syndrome harbouring biallelic variants in ABHD12\",\"authors\":\"Sara Romero-Vázquez , Katy Linkens , Lyes Toualbi , Daniel Jackson , Cécile Méjécase , Henry Houlden , Mariya Moosajee\",\"doi\":\"10.1016/j.scr.2025.103661\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>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 <em>ABHD12</em> 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, <em>in vitro</em> 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.</div></div>\",\"PeriodicalId\":21843,\"journal\":{\"name\":\"Stem cell research\",\"volume\":\"83 \",\"pages\":\"Article 103661\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2025-01-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Stem cell research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S187350612500011X\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"BIOTECHNOLOGY & APPLIED MICROBIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Stem cell research","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S187350612500011X","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOTECHNOLOGY & APPLIED MICROBIOLOGY","Score":null,"Total":0}
Generation of a human iPSC line (UCLi025-A) from a patient with PHARC syndrome harbouring biallelic variants in ABHD12
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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Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.
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