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Generation of an induced pluripotent stem cell line (ZSPHARi002-A) from a patient with autosomal dominant polycystic kidney disease carrying a heterozygous PKD1 mutation. 从携带杂合子PKD1突变的常染色体显性多囊肾病患者获得诱导多能干细胞系（ZSPHARi002-A）
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-01 Epub Date: 2024-12-24 DOI: 10.1016/j.scr.2024.103643
Yeye Zhang, Ye Chen, Jun Fan, Guangzhao Lu, Qianzhou Lv, Donghui Lao, Xiaoyu Li
{"title":"Generation of an induced pluripotent stem cell line (ZSPHARi002-A) from a patient with autosomal dominant polycystic kidney disease carrying a heterozygous PKD1 mutation.","authors":"Yeye Zhang, Ye Chen, Jun Fan, Guangzhao Lu, Qianzhou Lv, Donghui Lao, Xiaoyu Li","doi":"10.1016/j.scr.2024.103643","DOIUrl":"10.1016/j.scr.2024.103643","url":null,"abstract":"<p><p>Autosomal dominant polycystic kidney disease (ADPKD), a single-gene-inherited kidney disease, is a common cause of end-stage kidney disease (ESKD). The PKD1 gene mutation is the most common cause of ADPKD, accounting for approximately 78% of cases. ADPKD is characterized by the scattered distribution of multiple cysts in the renal parenchyma, ultimately leading to ESKD. We collected peripheral blood mononuclear cells from a patient with ADPKD who carries a heterozygous PKD1 mutation and reprogrammed them into induced pluripotent stem cells (iPSCs). iPSC lines can provide a valuable resource for studying the pathogenesis of ADPKD and for drug screening purposes.</p>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"103643"},"PeriodicalIF":0.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142915576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi007-A) from a patient with Kennedy disease. 肯尼迪病患者诱导多能干细胞（iPSC）系（inndsu007 - a）的生成
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-01 Epub Date: 2024-12-25 DOI: 10.1016/j.scr.2024.103638
Bo Li, Yitong Yang, Yingxin Wang, Didi Shan, Jianing Li, Hongxu Wang, Xiaohan Sun, Yao Tang, Yichang Jiao, Xinbo Ji, Zexin Zhan, Bo Kong, Bo Gao, Yu Wang, Ping Sun, Fuchen Liu
{"title":"Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi007-A) from a patient with Kennedy disease.","authors":"Bo Li, Yitong Yang, Yingxin Wang, Didi Shan, Jianing Li, Hongxu Wang, Xiaohan Sun, Yao Tang, Yichang Jiao, Xinbo Ji, Zexin Zhan, Bo Kong, Bo Gao, Yu Wang, Ping Sun, Fuchen Liu","doi":"10.1016/j.scr.2024.103638","DOIUrl":"10.1016/j.scr.2024.103638","url":null,"abstract":"<p><p>Abnormal trinucleotide CAG repeat expansions in exon 1 of the Androgen Receptor (AR) gene has been identified as the cause of Kennedy disease (KD). We generated and characterized a human induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMC) of a patient with genetically confirmed KD. The pluripotency of these iPSCs was verified by the expression of several pluripotency markers at both RNA and protein levels, as well as their capability to differentiate into all three germ layers.</p>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"103638"},"PeriodicalIF":0.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142898260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of hiPSCs lines from three sporadic Parkinson's disease patients. 从三名散发性帕金森病患者体内产生 hiPSCs 细胞系。
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-01 Epub Date: 2024-12-10 DOI: 10.1016/j.scr.2024.103632
Giorgia Benedetto, Clara Zannino, Desirée Valente, Raffaele Covello, Stefania Scalise, Valeria Lucchino, Andrea Quattrone, Elvira I Parrotta, Aldo Quattrone, Giovanni Cuda
{"title":"Generation of hiPSCs lines from three sporadic Parkinson's disease patients.","authors":"Giorgia Benedetto, Clara Zannino, Desirée Valente, Raffaele Covello, Stefania Scalise, Valeria Lucchino, Andrea Quattrone, Elvira I Parrotta, Aldo Quattrone, Giovanni Cuda","doi":"10.1016/j.scr.2024.103632","DOIUrl":"10.1016/j.scr.2024.103632","url":null,"abstract":"<p><p>Here, we described the generation of human induced pluripotent stem cell lines (hiPSCs) from three sporadic Parkinson's disease (sPD) patients by reprogramming of their peripheral blood mononuclear cells (PBMC).</p>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"103632"},"PeriodicalIF":0.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene. 由PRPF31基因突变引起的视网膜色素变性患者的人类iPSC系ESi132-A的生成
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-01 Epub Date: 2024-12-07 DOI: 10.1016/j.scr.2024.103623
Estefanía Caballano Infantes, Laurie Clauzon, Berta de la Cerda Haynes, Francisco Díaz-Corrales
{"title":"Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene.","authors":"Estefanía Caballano Infantes, Laurie Clauzon, Berta de la Cerda Haynes, Francisco Díaz-Corrales","doi":"10.1016/j.scr.2024.103623","DOIUrl":"10.1016/j.scr.2024.103623","url":null,"abstract":"<p><p>Mutations in the PRPF31 gene are a well-known cause of autosomal dominant retinitis pigmentosa (RP), the most prevalent genetic form of blindness in adults, affecting 1 in 4,000 individuals globally. In this study, peripheral blood mononuclear cells from a patient carrying a heterozygous mutation in PRPF31 were reprogrammed to generate the human iPSC line ESi132-A. This cell line was thoroughly characterized for self-renewal and pluripotency. These cells will be used to develop advanced 3D biomodels based on multi-ocular cell differentiation to assess the efficacy of novel treatments for RP including innovative drug and gene therapies.</p>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"103623"},"PeriodicalIF":0.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928212","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation and characterization of novel induced pluripotent stem cell (iPSC) lines derived from three symptomatic carriers of a pathogenic MYH11 variant and two non-carrier relatives. 一种致病性MYH11变体的三个症状携带者和两个非携带者亲属衍生的新型诱导多能干细胞（iPSC）系的产生和特性
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-01 Epub Date: 2024-12-12 DOI: 10.1016/j.scr.2024.103630
Aria Atash, Maarten Jan Cramer, Barend Mees, Pieter A Doevendans, Joost P G Sluijter, Francesca Stillitano
{"title":"Generation and characterization of novel induced pluripotent stem cell (iPSC) lines derived from three symptomatic carriers of a pathogenic MYH11 variant and two non-carrier relatives.","authors":"Aria Atash, Maarten Jan Cramer, Barend Mees, Pieter A Doevendans, Joost P G Sluijter, Francesca Stillitano","doi":"10.1016/j.scr.2024.103630","DOIUrl":"10.1016/j.scr.2024.103630","url":null,"abstract":"<p><p>A novel pathogenic variant in the MYH11 gene (c.4559+1G>A) leading to exon 32 skipping, is a rare cause of familial aortic aneurysms and dissections (fTAAD). The phenotype has proven highly variable with reduced penetrance. Here, we report human induced pluripotent stem cell (iPSC) lines, generated from peripheral blood mononuclear cells (PBMCs) of three variant carriers and two non-carrying family members. Each iPSC line exhibited typical iPSC morphology and expressed positive markers for pluripotency and tri-lineage differentiation. These cell lines offer a platform for in vitro investigation of the unknown fTAAD pathophysiology and testing of therapeutical agents for aneurysm growth attenuation.</p>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"103630"},"PeriodicalIF":0.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142871804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of an isogenic series of genome-edited hiPSC lines with the BAG3P209L-mutation for modeling myofibrillar myopathy 6. 产生具有bag3p209l突变的等基因基因组编辑的hiPSC系，用于模拟肌原纤维性肌病
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-01 Epub Date: 2024-12-21 DOI: 10.1016/j.scr.2024.103641
Isabelle Riße, Kerstin Filippi, Martin Wiemann, Bernd K Fleischmann, Michael Hesse
{"title":"Generation of an isogenic series of genome-edited hiPSC lines with the BAG3<sup>P209L</sup>-mutation for modeling myofibrillar myopathy 6.","authors":"Isabelle Riße, Kerstin Filippi, Martin Wiemann, Bernd K Fleischmann, Michael Hesse","doi":"10.1016/j.scr.2024.103641","DOIUrl":"10.1016/j.scr.2024.103641","url":null,"abstract":"<p><p>BAG3 contributes to the maintenance of proteostasis through chaperone-assisted selective autophagy. This function is impaired by a single amino acid exchange (P209L) in the protein, which causes myofibrillar myopathy-6 (MFM6). This disease manifests as severe skeletal muscle weakness, neuropathy and restrictive cardiomyopathy. We generated an isogenic series of heterozygous and homozygous genome-edited human induced pluripotent stem cell (hiPSC) lines with the BAG3<sup>P209L</sup>-mutation and its control. For quality control, we tested the pluripotency of these hiPSC lines and their ability to differentiate into the three germ layers. Generation of these cell lines enables the analysis of cellular pathomechanisms of BAG3<sup>P209L</sup>-related MFM6.</p>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"103641"},"PeriodicalIF":0.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142898262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Human induced pluripotent stem cell line XXMUFAi001-A generated from a patient harboring KCNH2 mutation (c. 2690 A>C). 由携带KCNH2突变（c. 2690 a > c）的患者产生的人诱导多能干细胞系XXMUFAi001-A。
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-01 Epub Date: 2024-12-19 DOI: 10.1016/j.scr.2024.103635
Xiaolei Li, Junbiao Zhang, Xiaofeng Wang, Dawei Pu, Zhenling Zhang, Yifang Niu, Shuai Zhang, Zhenping Fan, Yuxuan Li, Peicheng Li, Hui Liu, Fenghua Lv, Yongchun Zhang, Ya'nan Li
{"title":"Human induced pluripotent stem cell line XXMUFAi001-A generated from a patient harboring KCNH2 mutation (c. 2690 A>C).","authors":"Xiaolei Li, Junbiao Zhang, Xiaofeng Wang, Dawei Pu, Zhenling Zhang, Yifang Niu, Shuai Zhang, Zhenping Fan, Yuxuan Li, Peicheng Li, Hui Liu, Fenghua Lv, Yongchun Zhang, Ya'nan Li","doi":"10.1016/j.scr.2024.103635","DOIUrl":"10.1016/j.scr.2024.103635","url":null,"abstract":"<p><p>Long QT syndrome type 2 (LQT2), caused by mutations in the KCNH2 gene, is an inherited ion channel disorder associated with sudden death in adolescents. In this study, we generated a patient-specific induced pluripotent stem cell (iPSC) line XXMUFAi001-A using non-integrative Sendai reprogramming technology from an individual carrying a heterozygous point mutation (c.2690 A>C) in KCNH2. XXMUFAi001-A cell line exhibited expression of pluripotency markers and demonstrated teratoma formation capability in vivo, as well as the potential to differentiate into all three germ layers. The establishment of XXMUFAi001-A is crucial for investigating the pathogenesis and drug screening of LQT2.</p>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"103635"},"PeriodicalIF":0.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of a human induced pluripotent stem cell line NTUHi006-A from a polycystic ovarian syndrome patient. 多囊卵巢综合征患者诱导多能干细胞NTUHi006-A的生成
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-01 Epub Date: 2024-12-30 DOI: 10.1016/j.scr.2024.103647
Chia-Eng Wu, Hsiang-Po Huang, Hong-Nerng Ho, Mei-Jou Chen
{"title":"Generation of a human induced pluripotent stem cell line NTUHi006-A from a polycystic ovarian syndrome patient.","authors":"Chia-Eng Wu, Hsiang-Po Huang, Hong-Nerng Ho, Mei-Jou Chen","doi":"10.1016/j.scr.2024.103647","DOIUrl":"10.1016/j.scr.2024.103647","url":null,"abstract":"<p><p>Polycystic ovary syndrome (PCOS) is a common endocrine disorder related to multifactors and genetic polymorphisms. Here, we derived an induced pluripotent stem cell (hiPSC) line NTUHi006-A from a phenotype A (full-blown) PCOS patients with clinical hyperandrogenism, chronic anovulation, and polycystic ovarian morphology on ultrasonography. NTUHi006-A showed stemness, pluripotency and stem cell-like morphology.</p>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"103647"},"PeriodicalIF":0.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142915574","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of a genetically encoded voltage indicator MARINA reporter human iPS cell line using Cas9 (VULSCi002-A-2). 使用Cas9 （VULSCi002-A-2）生成遗传编码电压指示器MARINA报告细胞。
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-01 Epub Date: 2024-12-12 DOI: 10.1016/j.scr.2024.103628
Aistė Petruškevičiūtė, Ugnė Šimuliūnaitė, Catalina M Polanco, Barbara Rojas, Simonas Kuras, Beatričė Valatkaitė-Rakštienė, Rimvydas Norvilas, Akshay Kumar Vijaya, Patricia Muñoz, Urtė Neniškytė, Artūras Jakubauskas, Aurelijus Burokas, Ivan Nalvarte, Jose Inzunza, Daniel Naumovas, Mindaugas Stoškus, Laimonas Griškevičius, Daiva Baltriukienė, Jonathan Arias
{"title":"Generation of a genetically encoded voltage indicator MARINA reporter human iPS cell line using Cas9 (VULSCi002-A-2).","authors":"Aistė Petruškevičiūtė, Ugnė Šimuliūnaitė, Catalina M Polanco, Barbara Rojas, Simonas Kuras, Beatričė Valatkaitė-Rakštienė, Rimvydas Norvilas, Akshay Kumar Vijaya, Patricia Muñoz, Urtė Neniškytė, Artūras Jakubauskas, Aurelijus Burokas, Ivan Nalvarte, Jose Inzunza, Daniel Naumovas, Mindaugas Stoškus, Laimonas Griškevičius, Daiva Baltriukienė, Jonathan Arias","doi":"10.1016/j.scr.2024.103628","DOIUrl":"10.1016/j.scr.2024.103628","url":null,"abstract":"<p><p>Fluorescent protein-based Genetically Encoded Voltage Indicators (GEVI) offer a remarkable system for high-throughput screening of membrane potential phenotypes. The GEVI MARINA is a derivative from ArcLight, which conversely to ArcLight increases its fluorescence intensity alongside depolarization. Here we created knock-in reporter human iPS cell lines carrying the MARINA reporter using SpCas9 programmable nuclease and characterize a heterozygous clone.</p>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"103628"},"PeriodicalIF":0.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142898259","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation and characterization of an isogenic control line by correcting the BAG3 P209L mutation of a human induced pluripotent stem cell (hiPSC) line from a patient with myofibrillar myopathy-6. 通过纠正来自肌原性肌病患者的人诱导多能干细胞（hiPSC）系BAG3 P209L突变，生成和表征等基因控制系-6。
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-01 Epub Date: 2024-12-09 DOI: 10.1016/j.scr.2024.103626
Kerstin Filippi, Isabelle Riße, Luke M Judge, Bruce R Conklin, Bernd K Fleischmann, Michael Hesse
{"title":"Generation and characterization of an isogenic control line by correcting the BAG3 P209L mutation of a human induced pluripotent stem cell (hiPSC) line from a patient with myofibrillar myopathy-6.","authors":"Kerstin Filippi, Isabelle Riße, Luke M Judge, Bruce R Conklin, Bernd K Fleischmann, Michael Hesse","doi":"10.1016/j.scr.2024.103626","DOIUrl":"10.1016/j.scr.2024.103626","url":null,"abstract":"<p><p>BAG3 is a central component of the chaperone-assisted selective autophagy complex and thus important for proteostasis. This function is affected by a point mutation (p.P209L; c.626C>T) in the BAG3 gene, leading to myofibrillar myopathy-6 (MFM6), restrictive cardiomyopathy and polyneuropathy, which manifests as severe skeletal muscle weakness and heart failure. The isogenic induced pluripotent stem cell (iPSC) control line was generated by correcting for c.626C>T in iPSCs from MFM6-patient. Quality control was achieved by testing for pluripotency and differentiation into the three germ layers. In conjunction with patient-specific MFM6 hiPSC, the isogenic hiPSC control line enable the correct analysis of MFM6.</p>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"103626"},"PeriodicalIF":0.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142814307","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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