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Generation of an induced pluripotent stem cell line (NCHi023-A) from a 41-year-old male with nemaline myopathy carrying autosomal dominant ACTA1 c.809-10C>A mutation
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-03-24 DOI: 10.1016/j.scr.2025.103701
Meghan Hanley , Shiqiao Ye , Jingting Zhu , Yang Yu , Hui Lin , Kevin Flanigan , Afrooz Rashnonejad , Ming-Tao Zhao
{"title":"Generation of an induced pluripotent stem cell line (NCHi023-A) from a 41-year-old male with nemaline myopathy carrying autosomal dominant ACTA1 c.809-10C>A mutation","authors":"Meghan Hanley ,&nbsp;Shiqiao Ye ,&nbsp;Jingting Zhu ,&nbsp;Yang Yu ,&nbsp;Hui Lin ,&nbsp;Kevin Flanigan ,&nbsp;Afrooz Rashnonejad ,&nbsp;Ming-Tao Zhao","doi":"10.1016/j.scr.2025.103701","DOIUrl":"10.1016/j.scr.2025.103701","url":null,"abstract":"<div><div>Nemaline myopathy is a rare genetic condition characterized by weakened muscles due to thread-like rods, called nemaline bodies, in muscle fibers. This condition varies in time of onset and severity. Although there is no cure, therapies and treatments are available to reduce symptoms. This iPSC line, NCHi023-A, was reprogrammed using Sendai virus from skin fibroblasts from a male patient with nemaline myopathy carrying a pathogenic heterozygous <em>ACTA1</em> mutation. Characterization of this line was successful, with validation of cell identity, normal morphology and karyotype, positive expression of germ layer and pluripotency markers, and negative expression for mycoplasma and transgenes.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103701"},"PeriodicalIF":0.8,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Corrigendum to "Generation of two human iPSC lines with Exon 3 mutations in BLC2-Associated Athanogene 3 (BAG3) from dilated cardiomyopathy patients" [Stem Cell Res. 67 (2023) 103019].
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-03-18 DOI: 10.1016/j.scr.2025.103692
Peter-James H Zushin, Yang Zhou, Audrey Li, Euan A Ashley, Matthew T Wheeler, Joseph C Wu
{"title":"Corrigendum to \"Generation of two human iPSC lines with Exon 3 mutations in BLC2-Associated Athanogene 3 (BAG3) from dilated cardiomyopathy patients\" [Stem Cell Res. 67 (2023) 103019].","authors":"Peter-James H Zushin, Yang Zhou, Audrey Li, Euan A Ashley, Matthew T Wheeler, Joseph C Wu","doi":"10.1016/j.scr.2025.103692","DOIUrl":"https://doi.org/10.1016/j.scr.2025.103692","url":null,"abstract":"","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":" ","pages":"103692"},"PeriodicalIF":0.8,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143664362","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 TP53 knock out induced pluripotent stem cell using CRISPR/Cas9 利用 CRISPR/Cas9 生成 TP53 基因敲除诱导多能干细胞
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-03-16 DOI: 10.1016/j.scr.2025.103699
Haonan Zhou , Yaonan Liu , Qu Chen , Ke Huang , Pei-Gen Ren
{"title":"Generation of TP53 knock out induced pluripotent stem cell using CRISPR/Cas9","authors":"Haonan Zhou ,&nbsp;Yaonan Liu ,&nbsp;Qu Chen ,&nbsp;Ke Huang ,&nbsp;Pei-Gen Ren","doi":"10.1016/j.scr.2025.103699","DOIUrl":"10.1016/j.scr.2025.103699","url":null,"abstract":"<div><div>The TP53 gene is an important tumor suppressor gene. Through CRISPR/Cas9 technology, we have established a TP53 gene knockout cell line in iPSCs (SIIBRi001-A). This cell line maintains normal stem cell-like morphology, karyotype, expresses markers of pluripotency, and is capable of generating teratomas in immunodeficient mice. Quantitative analysis of pluripotency gene expression remains normal. This cell line can be utilized for studying the mechanisms underlying tumorigenesis.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103699"},"PeriodicalIF":0.8,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of the human iPSC line UNIPDi006-A from a patient with arrhythmogenic cardiomyopathy carrying the DSG2 c.1672C > T pathogenic variant
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-03-13 DOI: 10.1016/j.scr.2025.103695
Claudia Sacchetto , Martina Rabino , Marianna Paulis , Sabina Ferron , Barbara Bauce , Libero Vitiello , Alessandra Rampazzo , Leon J. de Windt , Elisa Di Pasquale , Martina Calore
{"title":"Generation of the human iPSC line UNIPDi006-A from a patient with arrhythmogenic cardiomyopathy carrying the DSG2 c.1672C > T pathogenic variant","authors":"Claudia Sacchetto ,&nbsp;Martina Rabino ,&nbsp;Marianna Paulis ,&nbsp;Sabina Ferron ,&nbsp;Barbara Bauce ,&nbsp;Libero Vitiello ,&nbsp;Alessandra Rampazzo ,&nbsp;Leon J. de Windt ,&nbsp;Elisa Di Pasquale ,&nbsp;Martina Calore","doi":"10.1016/j.scr.2025.103695","DOIUrl":"10.1016/j.scr.2025.103695","url":null,"abstract":"<div><div>Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by arrhythmias, risk of sudden cardiac death, and progressive fibro-fatty replacement in the myocardium. <em>DSG2</em>, encoding the desmosomal protein desmoglein-2, is one of the most frequently mutated genes in patients with ACM. We generated human induced pluripotent stem cells (hiPSCs) from epithelial renal cells of one ACM patient carrying the heterozygous nonsense DSG2 c.1672C &gt; T mutation. The generated hiPSCs showed normal karyotype, expression of pluripotency markers, and trilineage differentiation potential. The reported line (UNIPDi006-A) might represent a useful tool for <em>in vitro</em> modeling of ACM.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103695"},"PeriodicalIF":0.8,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143642786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Derivation of the IGGi006-A stem cell line from a patient with CAPRIN1 haploinsufficiency
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-03-13 DOI: 10.1016/j.scr.2025.103696
Giuseppina Conteduca , Chiara Baldo , Alessia Arado , Joana Soraia Martinheira da Silva , Renata Bocciardi , Barbara Testa , Simona Baldassari , Maria Margherita Mancardi , Federico Zara , Michela Malacarne , Domenico Coviello
{"title":"Derivation of the IGGi006-A stem cell line from a patient with CAPRIN1 haploinsufficiency","authors":"Giuseppina Conteduca ,&nbsp;Chiara Baldo ,&nbsp;Alessia Arado ,&nbsp;Joana Soraia Martinheira da Silva ,&nbsp;Renata Bocciardi ,&nbsp;Barbara Testa ,&nbsp;Simona Baldassari ,&nbsp;Maria Margherita Mancardi ,&nbsp;Federico Zara ,&nbsp;Michela Malacarne ,&nbsp;Domenico Coviello","doi":"10.1016/j.scr.2025.103696","DOIUrl":"10.1016/j.scr.2025.103696","url":null,"abstract":"<div><div><em>CAPRIN1</em> gene encodes a RNA-binding protein, abundant in the brain where it plays a crucial role, regulating the transport and translation of mRNAs of synaptic proteins.<!--> <em>CAPRIN1</em> haploinsufficiency causes a neurodevelopmental disorder characterized by language impairment/speech delay, intellectual disability, attention deficit, hyperactivity disorder, and autism spectrum disorder. To understand the pathogenesis of this disorder and in view of future treatment, we generated human induced pluripotent stem cells (iPSCs) from a patient carrying the c.1744C&gt;T <em>CAPRIN1</em> variant. The line show marker expression for the pluripotency and the capacity to differentiate into the three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103696"},"PeriodicalIF":0.8,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correction of the Allan-Herndon-Dudley syndrome-causing SLC16A2 mutation G401R in a patient derived hiPSC line
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-03-12 DOI: 10.1016/j.scr.2025.103698
Katarzyna A. Ludwik , Robert Opitz , Sabine Jyrch , Matthias Megges , Peter Kühnen , Harald Stachelscheid
{"title":"Correction of the Allan-Herndon-Dudley syndrome-causing SLC16A2 mutation G401R in a patient derived hiPSC line","authors":"Katarzyna A. Ludwik ,&nbsp;Robert Opitz ,&nbsp;Sabine Jyrch ,&nbsp;Matthias Megges ,&nbsp;Peter Kühnen ,&nbsp;Harald Stachelscheid","doi":"10.1016/j.scr.2025.103698","DOIUrl":"10.1016/j.scr.2025.103698","url":null,"abstract":"<div><div>The X-linked Allan-Herndon-Dudley syndrome (AHDS) is a genetic disorder characterized by severe psychomotor impairment, resulting from mutations in the <em>SLC16A2</em> gene, which encodes the thyroid hormone transporter MCT8 (monocarboxylate transporter 8). Previously, we established a hiPSC line from a patient carrying the <em>SLC16A2</em>:R401G mutation (BIHi045-A). Using CRISPR/Cas9-mediated gene editing, we targeted exon 3 of <em>SLC16A2</em> and used single-stranded oligodeoxynucleotides as homology-directed repair templates to correct the R401G missense mutation, generating an isogenic control cell line.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103698"},"PeriodicalIF":0.8,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143679854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Derivation of human-derived iPSC line from a male adolescent with first-episode of sporadic schizophrenia
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-03-10 DOI: 10.1016/j.scr.2025.103694
Youhui Jiang , Chuqing Zhou , Jun Zhao , Xinyi Ren , Qiang Wang , Peiyan Ni , Tao Li
{"title":"Derivation of human-derived iPSC line from a male adolescent with first-episode of sporadic schizophrenia","authors":"Youhui Jiang ,&nbsp;Chuqing Zhou ,&nbsp;Jun Zhao ,&nbsp;Xinyi Ren ,&nbsp;Qiang Wang ,&nbsp;Peiyan Ni ,&nbsp;Tao Li","doi":"10.1016/j.scr.2025.103694","DOIUrl":"10.1016/j.scr.2025.103694","url":null,"abstract":"<div><div>Schizophrenia is considered to be a neurodevelopmental disorder with high heritability. In this study, peripheral blood mononuclear cells (PBMCs) were collected from a male adolescent diagnosed with first-episode of sporadic schizophrenia. Induced pluripotent stem cells (iPSCs) were generated by reprogramming using the factors <em>OCT4</em>, <em>SOX2</em>, <em>NANOG</em>, <em>LIN28</em>, <em>c-MYC</em>, <em>KLF4</em>, and <em>SV40LT</em>. The generated iPSC line was validated by karyotype analysis and expression of pluripotency markers. These iPSCs were capable of differentiating into derivatives of all three germ layers <em>in vivo</em>.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103694"},"PeriodicalIF":0.8,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143610789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of human induced pluripotent stem cell line from peripheral blood of patient with lymphedema-distichiasis syndrome
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-03-07 DOI: 10.1016/j.scr.2025.103693
Marta Białobrzeska , Jacek Stępniewski , Alicja Martyniak , Andrzej Szuba , Józef Dulak
{"title":"Generation of human induced pluripotent stem cell line from peripheral blood of patient with lymphedema-distichiasis syndrome","authors":"Marta Białobrzeska ,&nbsp;Jacek Stępniewski ,&nbsp;Alicja Martyniak ,&nbsp;Andrzej Szuba ,&nbsp;Józef Dulak","doi":"10.1016/j.scr.2025.103693","DOIUrl":"10.1016/j.scr.2025.103693","url":null,"abstract":"<div><div>Lymphedema-distichiasis syndrome (LDS) is an autosomal dominant genetic disorder associated with mutations in forkhead box C2 (<em>FOXC2</em>) gene, critical for lymphatic endothelial cell (LEC) differentiation. LDS patients suffer from swelling of limbs (lymphedema) due to excessive lymph accumulation and are characterized by the presence of additional row of eyelashes (distichiasis). Here, we generated human induced pluripotent stem cells (hiPSCs) from LDS patient-derived peripheral blood mononuclear cells (PBMCs). LDS hiPSC line allows <em>in vitro</em> modeling and investigation of the molecular mechanisms of LDS upon differentiation towards LEC.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103693"},"PeriodicalIF":0.8,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143594162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of human induced pluripotent stem cell (hiPSC) lines from patients with extreme high and low polygenic scores for QT interval
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-27 DOI: 10.1016/j.scr.2025.103691
Devyn Mitchell , Rizwan Ullah , Loren Vanags , Alex Shen , Luke Jones , William Morris , Matthew J. O’Neill , Giovanni Davogustto , Christian Shaffer , Dan Roden , Ben Shoemaker , Hollie Williams , Teresa Strickland , Taylor Agee , Christopher Johnson , Brett Kroncke
{"title":"Generation of human induced pluripotent stem cell (hiPSC) lines from patients with extreme high and low polygenic scores for QT interval","authors":"Devyn Mitchell ,&nbsp;Rizwan Ullah ,&nbsp;Loren Vanags ,&nbsp;Alex Shen ,&nbsp;Luke Jones ,&nbsp;William Morris ,&nbsp;Matthew J. O’Neill ,&nbsp;Giovanni Davogustto ,&nbsp;Christian Shaffer ,&nbsp;Dan Roden ,&nbsp;Ben Shoemaker ,&nbsp;Hollie Williams ,&nbsp;Teresa Strickland ,&nbsp;Taylor Agee ,&nbsp;Christopher Johnson ,&nbsp;Brett Kroncke","doi":"10.1016/j.scr.2025.103691","DOIUrl":"10.1016/j.scr.2025.103691","url":null,"abstract":"<div><div>Long QT syndrome (LQTS), an inherited cardiac arrhythmia syndrome with congenital and drug-induced presentations and known monogenic and polygenic contributions, represents a significant clinical challenge due to its complex genetic underpinning and propensity for fatal arrhythmias. In this study, we generated induced pluripotent stem cells (iPSCs) reprogrammed from peripheral blood mononuclear cells (PBMCs) of six patients with extreme polygenic scores for short and long corrected QT intervals. This patient-specific approach will enable us to better understand variable expressivity and penetrance of LQTS, using rigorously validated iPSC lines serve as a vital resource for elucidating the molecular mechanisms underlying LQTS.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103691"},"PeriodicalIF":0.8,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143534341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Human induced pluripotent stem cell line (PNUSCRi006-A) derived from a patient with Sanfilippo syndrome type A exhibiting a mutation in SGSH gene
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-25 DOI: 10.1016/j.scr.2025.103690
Nayeon Lee , Haneul Noh , Chong Kun Cheon
{"title":"Human induced pluripotent stem cell line (PNUSCRi006-A) derived from a patient with Sanfilippo syndrome type A exhibiting a mutation in SGSH gene","authors":"Nayeon Lee ,&nbsp;Haneul Noh ,&nbsp;Chong Kun Cheon","doi":"10.1016/j.scr.2025.103690","DOIUrl":"10.1016/j.scr.2025.103690","url":null,"abstract":"<div><div>Mucopolysaccharidosis Type IIIA (MPS IIIA), known as Sanfilippo syndrome type A, is a rare autosomal recessive lysosomal storage disorder caused by the mutations in the N-sulfoglucosamine Sulfohydrolase (SGSH) gene, encoding the enzyme heparan N-sulfatase (HNS). We obtained peripheral blood mononuclear cells (PBMCs) from a patient diagnosed with Sanfilippo syndrome carrying the mutation c.[706G&gt;A(p.Asp235Asn)];c.[449G&gt;A (p.Arg150Gln)] in the SGSH gene. We successfully generated an induced pluripotent stem cell (iPSC) line from isolated patient PBMCs using a non-integrative Sendai virus method. The hiPSCs displayed characteristics of embryonic stem cells, showed the ability to differentiate into three germ layers, and presented a normal karyotype.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103690"},"PeriodicalIF":0.8,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143510287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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