Chiara Pavan , Jennifer Jin , Sharon Jong , Gordon Qian , Dario Strbenac , Ryan L. Davis , Glenda M. Halliday , Deniz Kirik , Clare L. Parish , Lachlan H. Thompson , Carolyn M. Sue , Dmitry A. Ovchinnikov
{"title":"来自早发性帕金森病女性患者的PARKIN蛋白缺陷iPSC系(FINi006-A","authors":"Chiara Pavan , Jennifer Jin , Sharon Jong , Gordon Qian , Dario Strbenac , Ryan L. Davis , Glenda M. Halliday , Deniz Kirik , Clare L. Parish , Lachlan H. Thompson , Carolyn M. Sue , Dmitry A. Ovchinnikov","doi":"10.1016/j.scr.2025.103795","DOIUrl":null,"url":null,"abstract":"<div><div>Compound heterozygosity for strong hypomorphic mutations in the <em>PRKN</em> gene is a common cause of autosomal familial Parkinson’s disease (PD). We generated an iPSC cell line from the fibroblasts of a PARKIN protein-deficient early-onset PD female patient, carrying genomic deletions of exon 2 and exons 5–7. This line displays characteristic human iPSC morphology and expression of pluripotency-associated genes, and the ability to differentiate into derivatives of three embryonic germ layers, and has a normal karyotype without any SNP array-detectable copy number variations. We anticipate the value of this PARKIN-deficient iPSC line and its derivatives in illuminating the intracellular role of this protein, contributing to the development of PD<em>.</em></div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103795"},"PeriodicalIF":0.7000,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"PARKIN protein-deficient iPSC line (FINi006-A) from an early-onset Parkinson’s disease female patient\",\"authors\":\"Chiara Pavan , Jennifer Jin , Sharon Jong , Gordon Qian , Dario Strbenac , Ryan L. Davis , Glenda M. Halliday , Deniz Kirik , Clare L. Parish , Lachlan H. Thompson , Carolyn M. Sue , Dmitry A. Ovchinnikov\",\"doi\":\"10.1016/j.scr.2025.103795\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Compound heterozygosity for strong hypomorphic mutations in the <em>PRKN</em> gene is a common cause of autosomal familial Parkinson’s disease (PD). We generated an iPSC cell line from the fibroblasts of a PARKIN protein-deficient early-onset PD female patient, carrying genomic deletions of exon 2 and exons 5–7. This line displays characteristic human iPSC morphology and expression of pluripotency-associated genes, and the ability to differentiate into derivatives of three embryonic germ layers, and has a normal karyotype without any SNP array-detectable copy number variations. We anticipate the value of this PARKIN-deficient iPSC line and its derivatives in illuminating the intracellular role of this protein, contributing to the development of PD<em>.</em></div></div>\",\"PeriodicalId\":21843,\"journal\":{\"name\":\"Stem cell research\",\"volume\":\"87 \",\"pages\":\"Article 103795\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2025-07-29\",\"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/S187350612500145X\",\"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/S187350612500145X","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOTECHNOLOGY & APPLIED MICROBIOLOGY","Score":null,"Total":0}
PARKIN protein-deficient iPSC line (FINi006-A) from an early-onset Parkinson’s disease female patient
Compound heterozygosity for strong hypomorphic mutations in the PRKN gene is a common cause of autosomal familial Parkinson’s disease (PD). We generated an iPSC cell line from the fibroblasts of a PARKIN protein-deficient early-onset PD female patient, carrying genomic deletions of exon 2 and exons 5–7. This line displays characteristic human iPSC morphology and expression of pluripotency-associated genes, and the ability to differentiate into derivatives of three embryonic germ layers, and has a normal karyotype without any SNP array-detectable copy number variations. We anticipate the value of this PARKIN-deficient iPSC line and its derivatives in illuminating the intracellular role of this protein, contributing to the development of PD.
期刊介绍:
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.