Stem cell research最新文献

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Simultaneous reprogramming and gene correction to generate six iPSC lines and isogenic controls from individuals with neurofibromatosis type 1 同时重编程和基因校正生成6个iPSC系和来自1型神经纤维瘤病个体的等基因对照
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2026-01-01 DOI: 10.1016/j.scr.2025.103904
Kiymet Bozaoglu , Sarah Massie , Friederike Elise Irion , Kayli C. Davies , Inbal Kantor , Mai Raabus , Kristina M. Haebich , Katerina Vlahos , Sara E Howden , Jordan Wright , Jonathan M. Payne , Paul J. Lockhart
{"title":"Simultaneous reprogramming and gene correction to generate six iPSC lines and isogenic controls from individuals with neurofibromatosis type 1","authors":"Kiymet Bozaoglu ,&nbsp;Sarah Massie ,&nbsp;Friederike Elise Irion ,&nbsp;Kayli C. Davies ,&nbsp;Inbal Kantor ,&nbsp;Mai Raabus ,&nbsp;Kristina M. Haebich ,&nbsp;Katerina Vlahos ,&nbsp;Sara E Howden ,&nbsp;Jordan Wright ,&nbsp;Jonathan M. Payne ,&nbsp;Paul J. Lockhart","doi":"10.1016/j.scr.2025.103904","DOIUrl":"10.1016/j.scr.2025.103904","url":null,"abstract":"<div><div>Neurofibromatosis type 1 (NF1) is a neurodevelopmental disorder that affects ∼ 1: 2700 individuals (<span><span>Lee et al., 2023</span></span>) however the underlying pathogenic mechanisms are poorly understood. In this study, we performed simultaneous reprogramming and CRISPR-Cas9 genome editing to generate pluripotent stem cell (iPSCs) lines and their respective isogenic controls from six individuals with different pathogenic NF1 variants. All iPSC lines had a normal karyotype, were pluripotent and able to differentiate into the three embryonic germ layers. These iPSC lines are valuable pre-clinical models to investigate the pathomechanisms of NF1 and can be used for future screening to identify new therapeutic treatments for NF1.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103904"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913090","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 line (KCGMHi003-A) from a patient with spinocerebellar ataxia type 8 (SCA8) 脊髓小脑性共济失调8型(SCA8)患者诱导多能干细胞系(KCGMHi003-A)的生成
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2025-12-05 DOI: 10.1016/j.scr.2025.103879
Min-Yu Lan , Sheng-Jye Lim , Huai-En Lu , Meng-Han Tsai
{"title":"Generation of an induced pluripotent stem cell line (KCGMHi003-A) from a patient with spinocerebellar ataxia type 8 (SCA8)","authors":"Min-Yu Lan ,&nbsp;Sheng-Jye Lim ,&nbsp;Huai-En Lu ,&nbsp;Meng-Han Tsai","doi":"10.1016/j.scr.2025.103879","DOIUrl":"10.1016/j.scr.2025.103879","url":null,"abstract":"<div><div>Spinocerebellar Ataxia Type 8 (SCA8) is a rare, dominantly inherited neurodegenerative disorder characterized by progressive ataxia and nystagmus, and dysarthria. SCA8 is caused by bidirectional CTG/CAG repeat expansion in the ATXN8OS and ATXN8 gene. Peripheral blood mononuclear cells obtained from a SCA8 patient were successfully transformed into induced pluripotent stem cells (iPSC) (KCGMHi003-A) using Sendai virus. Our approach provided a resource for future pathogenesis study and drug screening of SCA8.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103879"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145683629","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 pluripotent human AGK knockout embryonic stem cell model (WAe009-A-3C) of Sengers syndrome seners综合征多能人AGK敲除胚胎干细胞模型(WAe009-A-3C)的建立。
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2025-12-22 DOI: 10.1016/j.scr.2025.103895
Yau Chung Low , Cameron L. McKnight , Diana Stojanovski , David R. Thorburn , Ann E. Frazier
{"title":"Generation of a pluripotent human AGK knockout embryonic stem cell model (WAe009-A-3C) of Sengers syndrome","authors":"Yau Chung Low ,&nbsp;Cameron L. McKnight ,&nbsp;Diana Stojanovski ,&nbsp;David R. Thorburn ,&nbsp;Ann E. Frazier","doi":"10.1016/j.scr.2025.103895","DOIUrl":"10.1016/j.scr.2025.103895","url":null,"abstract":"<div><div>Sengers syndrome is a rare mitochondrial disorder caused by the loss of a nuclear encoded mitochondrial protein, acylglycerol kinase (AGK). Here, we describe the generation of a novel <em>in vitro</em> stem cell model of Sengers syndrome (<em>AGK</em><sup>KO</sup> C10) using CRISPR/Cas9 gene editing. This cell line displayed normal characteristics of pluripotent stem cells, including colony morphology, expression of pluripotency markers, trilineage potential, and no karyotypic abnormalities. Together with the parental H9 hESC control line, the <em>AGK</em><sup>KO</sup> C10 line can ultimately be used for investigation of disease mechanisms and drug testing.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103895"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913219","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
CRISPR/Cpf1-mediated editing of PINK1 in induced pluripotent stem cells CRISPR/ cpf1介导的PINK1在诱导多能干细胞中的编辑
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2025-12-12 DOI: 10.1016/j.scr.2025.103887
Roohallah Ghodrat , Haribaskar Ramachandran , Barbara Hildebrandt , Stephanie Binder , Andrea Rossi , Andreas S. Reichert
{"title":"CRISPR/Cpf1-mediated editing of PINK1 in induced pluripotent stem cells","authors":"Roohallah Ghodrat ,&nbsp;Haribaskar Ramachandran ,&nbsp;Barbara Hildebrandt ,&nbsp;Stephanie Binder ,&nbsp;Andrea Rossi ,&nbsp;Andreas S. Reichert","doi":"10.1016/j.scr.2025.103887","DOIUrl":"10.1016/j.scr.2025.103887","url":null,"abstract":"<div><div>The PTEN induced kinase 1 (<em>PINK1</em>) gene is crucial for mitophagy and mitochondrial quality control. Mutations in the <em>PINK1</em> gene are associated with several neurological disorders. To decipher the role of PINK1-mediated mitophagy in human induced pluripotent stem cells (hiPSCs) and in their differentiated counterparts, we used CRISPR/Cpf1 and generated a human iPSC line with homozygous out-of-frame deletions by targeting exon 6 of the <em>PINK1</em> gene. The generated homozygous <em>PINK1</em> mutant cell line showed normal cell morphology, genomic stability, and expression of classical stem cell markers. Furthermore, the cells can be differentiated efficiently into the three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103887"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145775852","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
An induced pluripotent stem cell line (SJTUXHi003-A) derived from a patient with copy number variation in the gene LRP5 causing familial exudative vitreoretinopathy 一种诱导多能干细胞系(SJTUXHi003-A)来源于一名基因LRP5拷贝数变异导致家族性渗出性玻璃体视网膜病变的患者。
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2025-12-15 DOI: 10.1016/j.scr.2025.103890
Min Lin , Jia Luo , Miao-Miao Liu, Yi-Qiao Chen, Pei-Quan Zhao , Ping Fei
{"title":"An induced pluripotent stem cell line (SJTUXHi003-A) derived from a patient with copy number variation in the gene LRP5 causing familial exudative vitreoretinopathy","authors":"Min Lin ,&nbsp;Jia Luo ,&nbsp;Miao-Miao Liu,&nbsp;Yi-Qiao Chen,&nbsp;Pei-Quan Zhao ,&nbsp;Ping Fei","doi":"10.1016/j.scr.2025.103890","DOIUrl":"10.1016/j.scr.2025.103890","url":null,"abstract":"<div><div>Familial exudative vitreoretinopathy (FEVR) is an inherited disease of retinal vascular development, and mutations in the <em>LRP5</em> gene are associated with this disease. In this study, we generated a new induced pluripotent stem cell (iPSC) line, SJTUXHi003-A, from a patient with a novel copy number variation (CNV), exons 19–21 deletion in <em>LRP5</em>. This iPSC line exhibited a normal male karyotype with positive pluripotency markers, and could differentiate into three germ layers in vitro, providing a valuable model for studying the pathological mechanism of FEVR in vitro.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103890"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913179","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 three induced pluripotent stem cell clones from a functional single ventricle patient carrying the BRAF c.1897 T > C variant 从携带BRAF的功能性单心室患者身上克隆出的3个诱导多能干细胞T > C的变体
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2025-12-01 DOI: 10.1016/j.scr.2025.103877
Thomas A. Bos , Elizaveta Polyakova , Marco C. DeRuiter , Emile Nühn , Monique R.M. Jongbloed
{"title":"Generation of three induced pluripotent stem cell clones from a functional single ventricle patient carrying the BRAF c.1897 T > C variant","authors":"Thomas A. Bos ,&nbsp;Elizaveta Polyakova ,&nbsp;Marco C. DeRuiter ,&nbsp;Emile Nühn ,&nbsp;Monique R.M. Jongbloed","doi":"10.1016/j.scr.2025.103877","DOIUrl":"10.1016/j.scr.2025.103877","url":null,"abstract":"<div><div>Cardiofaciocutaneous syndrome is a genetic disorder characterized by congenital heart disease, developmental delays and ectodermal abnormalities. Cardiofaciocutaneous syndrome is caused by pathogenic variants in the genes of the RAS/MAPK pathway, particularly <em>BRAF</em>. However, the mechanism by which congenital heart defects arise in RASopathy patients is still poorly understood. Therefore, using non-integrating episomal vectors, we generated three hiPSC clones from peripheral blood mononuclear cells from a 33-year old male carrying a c.1897 T &gt; C missense variant in the <em>BRAF</em> gene, who was born with pulmonary stenosis, tricuspid atresia and hypoplastic right ventricle, consistent with a functional single ventricle.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103877"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145683628","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 induced pluripotent stem cell line UKWNLi010 derived from a patient carrying two homozygous single nucleotide polymorphisms (rs2839629 and rs915854) associated with an increased risk of painful bortezomib-induced peripheral neuropathy 来自携带两个纯合单核苷酸多态性(rs2839629和rs915854)的患者的人类诱导多能干细胞系UKWNLi010的产生与疼痛性鲍替佐米诱导的周围神经病变的风险增加相关。
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2025-12-24 DOI: 10.1016/j.scr.2025.103898
Julia Grüner , Eva Klopocki , Nurcan Üçeyler
{"title":"Generation of the human induced pluripotent stem cell line UKWNLi010 derived from a patient carrying two homozygous single nucleotide polymorphisms (rs2839629 and rs915854) associated with an increased risk of painful bortezomib-induced peripheral neuropathy","authors":"Julia Grüner ,&nbsp;Eva Klopocki ,&nbsp;Nurcan Üçeyler","doi":"10.1016/j.scr.2025.103898","DOIUrl":"10.1016/j.scr.2025.103898","url":null,"abstract":"<div><div>Bortezomib-induced peripheral neuropathy (BIPN) is a frequent, dose-limiting side effect in multiple myeloma (MM) patients treated with the proteasome inhibitor bortezomib (BTZ). To study the pathophysiology of pain in BIPN, we generated three induced pluripotent stem cell (iPSC) clones from human dermal fibroblasts (hdF) of a MM patient who developed painful BIPN and carried two homozygous risk variants (rs2839629 and rs915854). All clones exhibited typical iPSC morphology, expressed pluripotency markers, possessed normal karyotypes, and differentiated into all three germ layers. This patient-specific iPSC line provides an <em>in vitro</em> model to investigate genetic susceptibility and molecular mechanisms underlying pain in BIPN.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103898"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913215","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 two human iPSC lines from fibroblasts of BPAN patients carrying pathogenic variants in the WDR45 gene 从携带WDR45基因致病变异的BPAN患者的成纤维细胞中产生两种人类iPSC系。
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2025-12-19 DOI: 10.1016/j.scr.2025.103892
Gemma Gasparini , Carolin Kraus , Ejona Rusha , Tanja Orschmann , Saskia B. Wortmann , Johannes H. Mayr , Anna Ardissone , Arcangela Iuso
{"title":"Generation of two human iPSC lines from fibroblasts of BPAN patients carrying pathogenic variants in the WDR45 gene","authors":"Gemma Gasparini ,&nbsp;Carolin Kraus ,&nbsp;Ejona Rusha ,&nbsp;Tanja Orschmann ,&nbsp;Saskia B. Wortmann ,&nbsp;Johannes H. Mayr ,&nbsp;Anna Ardissone ,&nbsp;Arcangela Iuso","doi":"10.1016/j.scr.2025.103892","DOIUrl":"10.1016/j.scr.2025.103892","url":null,"abstract":"<div><div>Beta-propeller Protein-Associated Neurodegeneration (BPAN) is a rare X-linked dominant disorder (ORPHA:329284) characterized by brain iron accumulation, developmental delay, seizures, motor dysfunction, and progressive neurodegeneration. It results from pathogenic variants in<!--> <em>WDR45</em>, encoding WDR45/WIPI4, a key autophagy protein. No curative treatment exists; management is supportive. As BPAN pathogenesis remains unclear, research aims to elucidate its molecular mechanisms and develop targeted therapies. We generated and characterized two induced pluripotent stem cell (iPSC) lines from BPAN patient fibroblasts, providing essential models for studying disease mechanisms and developing effective therapeutic strategies.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103892"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913242","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 ESi148-A from a patient with sporadic amyotrophic lateral sclerosis 来自散发性肌萎缩性侧索硬化症患者的人类iPSC系ESi148-A的生成
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2025-12-15 DOI: 10.1016/j.scr.2025.103889
A.B. Garcia-Delgado , S. Bega , R. Campos-Cuerva , L. Martín-Banderas , C. Paradas , B. Fernandez-Muñoz
{"title":"Generation of the human iPSC line ESi148-A from a patient with sporadic amyotrophic lateral sclerosis","authors":"A.B. Garcia-Delgado ,&nbsp;S. Bega ,&nbsp;R. Campos-Cuerva ,&nbsp;L. Martín-Banderas ,&nbsp;C. Paradas ,&nbsp;B. Fernandez-Muñoz","doi":"10.1016/j.scr.2025.103889","DOIUrl":"10.1016/j.scr.2025.103889","url":null,"abstract":"<div><div>Nearly 90% of patients with amyotrophic lateral sclerosis (ALS) do not carry mutations in genes previously associated with the disease and are classified as sporadic cases with no identified genetic cause. In this study, peripheral blood mononuclear cells from a patient with sporadic ALS were reprogrammed to generate the human induced pluripotent stem cell (iPSC) line <em>ESi148-A</em>. The line was thoroughly characterized for pluripotency and genomic stability. These cells provide a valuable resource for generating 3D biomodels, such as cortical or spinal cord organoids, to investigate disease mechanisms and develop novel therapeutic approaches for sporadic ALS.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103889"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145790917","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 validation of an iPSC line HMSCATi009-A from a patient with frontotemporal dementia 来自额颞叶痴呆患者的iPSC系HMSCATi009-A的生成和验证
IF 0.7 4区 医学
Stem cell research Pub Date : 2026-02-01 Epub Date: 2026-01-03 DOI: 10.1016/j.scr.2025.103903
Jiaxuan Wang , Aoyu Hu , Hongying Zhao , Biqing Cao , Shan Wang , Min Ma , Qian Ren
{"title":"Generation and validation of an iPSC line HMSCATi009-A from a patient with frontotemporal dementia","authors":"Jiaxuan Wang ,&nbsp;Aoyu Hu ,&nbsp;Hongying Zhao ,&nbsp;Biqing Cao ,&nbsp;Shan Wang ,&nbsp;Min Ma ,&nbsp;Qian Ren","doi":"10.1016/j.scr.2025.103903","DOIUrl":"10.1016/j.scr.2025.103903","url":null,"abstract":"<div><div>The <em>CHMP2B</em> gene is recognized as a causative factor in neurodegenerative disorders, particularly frontotemporal dementia (FTD). In this study, peripheral blood mononuclear cells (PBMCs) were obtained from a FTD patient carrying a heterozygous <em>CHMP2B</em> c.532–2 (A &gt; T) mutation and successfully reprogrammed into induced pluripotent stem cell (iPSC) line HMSCATi009-A. The resulting iPSC line exhibited a normal karyotype, expressed high levels of core pluripotency markers, and retained the potential to differentiate into derivatives of all three germ layers, ectoderm, mesoderm, and endoderm. Furthermore, the iPSC line was verified negative for mycoplasma contamination. This patient-specific iPSC line constitutes a physiologically relevant platform for elucidating FTD pathogenic mechanisms and supporting screening for novel therapeutics.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103903"},"PeriodicalIF":0.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145925347","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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