Stem cell researchPub Date : 2025-12-01Epub Date: 2025-09-30DOI: 10.1016/j.scr.2025.103845
Yuxin Jiang , Hong Wang , Lihong Jiang , Jieqiong Chen , Tong Li , Guanran Zhang , Xueli Chen , Mei Jiang , Xiaodong Sun
{"title":"Corrigendum to “Generation of the induced pluripotent stem cell line SJTUGHi004-A derived from a Best’s disease patient with c.763C > T mutation in BEST1 gene” [Stem Cell Res. 88 (2025) 103806]","authors":"Yuxin Jiang , Hong Wang , Lihong Jiang , Jieqiong Chen , Tong Li , Guanran Zhang , Xueli Chen , Mei Jiang , Xiaodong Sun","doi":"10.1016/j.scr.2025.103845","DOIUrl":"10.1016/j.scr.2025.103845","url":null,"abstract":"","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103845"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145207663","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}
Stem cell researchPub Date : 2025-12-01Epub Date: 2025-10-22DOI: 10.1016/j.scr.2025.103858
Bailey E. Masser-Mitchell , Hayley S. McLoughlin
{"title":"Generation of an ITPR1+/− and isogenic control induced pluripotent stem cell line for SCA15/16 model development","authors":"Bailey E. Masser-Mitchell , Hayley S. McLoughlin","doi":"10.1016/j.scr.2025.103858","DOIUrl":"10.1016/j.scr.2025.103858","url":null,"abstract":"<div><div>Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare neurodegenerative disorder caused by heterozygous deletions of <em>ITPR1</em>, leading to haploinsufficiency of the encoded endoplasmic reticulum membrane calcium channel. Patients present with progressive gait disturbances, abnormal eye movements, difficulties with speech and swallowing, and tremors associated with atrophy of the cerebellum. Using CRISPR/Cas9 technology, we generated <em>ITPR1</em><sup>+/−</sup> and isogenic control induced pluripotent stem cell (iPSC) lines from PGP1 iPSCs for SCA15/16 model development. The clones were genotyped, karyotyped, and assessed for pluripotency and differentiation potential.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103858"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145446070","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}
Stem cell researchPub Date : 2025-12-01Epub Date: 2025-10-09DOI: 10.1016/j.scr.2025.103850
Chikage Noishiki , Amit Manhas , Shaunak S. Adkar , Dipti Tripathi , David Wu , Safa Sadat , Lu Liu , Karim Sallam , Nicholas J. Leeper , Eri Fukaya , Nazish Sayed
{"title":"Generation of an induced pluripotent stem cell line from a patient with Varicose veins","authors":"Chikage Noishiki , Amit Manhas , Shaunak S. Adkar , Dipti Tripathi , David Wu , Safa Sadat , Lu Liu , Karim Sallam , Nicholas J. Leeper , Eri Fukaya , Nazish Sayed","doi":"10.1016/j.scr.2025.103850","DOIUrl":"10.1016/j.scr.2025.103850","url":null,"abstract":"<div><div>Chronic venous disease is among the most common vascular diseases globally. Varicose veins (VV), characterized by permanent dilation, elongation, and tortuosity of superficial veins, is a manifestation of chronic venous disease. Here, we generated an induced pluripotent stem cell (iPSC) line from PBMCs obtained from a patient with VV. The iPSC line exhibited typical morphology, maintained undifferentiated hPSC state markers, demonstrated a normal karyotype, and successfully differentiated into all three germ layers. This iPSC line provides a valuable platform to model VV pathogenesis and investigate the molecular mechanisms underlying venous dysfunction.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103850"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145269971","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}
Stem cell researchPub Date : 2025-12-01Epub Date: 2025-10-30DOI: 10.1016/j.scr.2025.103863
Janice Raabe , Sigrid Fuchs , Christa Augustin , Alexandra Hammerschmidt , Elisabeth Krämer , Ellen Orthey , Elisabeth Ehler , Friederike Cuello
{"title":"Generation of a NRAP-overexpressing mutant from a human iPSC line","authors":"Janice Raabe , Sigrid Fuchs , Christa Augustin , Alexandra Hammerschmidt , Elisabeth Krämer , Ellen Orthey , Elisabeth Ehler , Friederike Cuello","doi":"10.1016/j.scr.2025.103863","DOIUrl":"10.1016/j.scr.2025.103863","url":null,"abstract":"<div><div>Cardiomyopathies are a major contributor to cardiovascular mortality and are frequently linked to abnormalities in intercalated discs, which coordinate mechanical and electrical signaling between cardiomyocytes. The Nebulin-Related Anchoring Protein (NRAP), a key component of these structures, is essential for myofibril formation and force transmission. In various cardiac diseases such as cardiomyopathies with differing genetic mutations, NRAP protein abundance is increased, yet the functional consequences of this expression change remain insufficiently characterized. To investigate the outcome of NRAP-overexpression (NRAP-OE) on cardiac development and disease, we established a human induced pluripotent stem cell (hiPSC) line with stable and specific NRAP-OE in cardiomyocytes using CRISPR-Cas9-based genome editing. The resulting line was rigorously validated for chromosomal integrity, pluripotency markers, absence of off-target effects and mycoplasma contamination, as well as its capacity for trilineage differentiation. This <em>NRAP</em>-OE model offers a novel platform for investigating how increased NRAP levels influence cardiomyocyte structure and function, and may provide insight into its role in the pathogenesis of cardiomyopathy.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103863"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145453113","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}
{"title":"Generation and validation of a iPSC line from a healthy female donor using integration-free Sendai virus reprogramming","authors":"Yuanyuan Chen, Xiaoqin Shi, Wei Long, Qing Shao, Haijiang Yu","doi":"10.1016/j.scr.2025.103844","DOIUrl":"10.1016/j.scr.2025.103844","url":null,"abstract":"<div><div>We generated a characterized integration-free iPSC line derived via Sendai virus reprogramming from healthy female donor PBMCs. This method preserves genomic integrity and pluripotent potential. Validated markers include nuclear/membrane-bound OCT4, SOX2, NANOG/SSEA4, TRA-1–60 (qPCR/immunocytochemistry) and tri-lineage differentiation capacity confirmed via immunofluorescence (endodermal FOXA2/SOX17, mesodermal BRACHYURY/NKX2.5, ectodermal PAX6/NESTIN). Normal karyotype (46,XX) confirmed genetic stability. Sendai clearance by P10 and mycoplasma-negative status ensured biosafety. This non-integrative iPSC line provides a robust control resource for disease modeling and regenerative medicine.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103844"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145227515","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}
Stem cell researchPub Date : 2025-12-01Epub Date: 2025-10-21DOI: 10.1016/j.scr.2025.103852
Naresh Rajendran , Ajeet Singh , Wendy Runyon , Sam Hu , Ritu Kumar , Rinki Ratnapriya , Karl Csaky , Srinivasa R. Sripathi
{"title":"Derivation of pluripotent stem cell lines (RFSCi005-A, RFSCi006-A) from siblings harboring identical high-risk complement variants with discordant age-related macular degeneration","authors":"Naresh Rajendran , Ajeet Singh , Wendy Runyon , Sam Hu , Ritu Kumar , Rinki Ratnapriya , Karl Csaky , Srinivasa R. Sripathi","doi":"10.1016/j.scr.2025.103852","DOIUrl":"10.1016/j.scr.2025.103852","url":null,"abstract":"<div><div>Age-related macular degeneration (AMD) is a complex disease influenced by genetic and environmental factors. Variants in the complement pathway, especially in the CFH gene, increase AMD risk, yet disease severity can differ among individuals with identical high-risk genotypes. We generated induced pluripotent stem cell (iPSC) lines from siblings carrying identical high-risk complement variants but displaying discordant AMD phenotypes. These lines provide a unique platform to study epigenetic, transcriptomic, and environmental factors driving AMD heterogeneity. By comparing differentiated retinal cells, we aim to reveal mechanisms behind variable disease susceptibility and inform personalized therapies for AMD.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103852"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145356084","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}
{"title":"Generation of integration-free human induced pluripotent stem cell line MUi040-A derived from CD34 + hematopoietic stem cells of a patient with constitutional pericentric inversion of chromosome 9","authors":"Aung Khine Linn , Phetcharat Phanthong , Yongyut Pewkliang , Wanida Laosee , Pirut Tong-Ngam , Alisa Tubsuwan , Objoon Trachoo , Nithi Asavapanumas , Suparerk Borwornpinyo , Suradej Hongeng , Teerapat Yingchoncharoen","doi":"10.1016/j.scr.2025.103866","DOIUrl":"10.1016/j.scr.2025.103866","url":null,"abstract":"<div><div>The MUi040-A human induced pluripotent stem cell (hiPSC) line was established from CD34 + hematopoietic stem cells of a male patient with senile amyloidosis. Patient carries a unique chromosome inversion at bands 9p12 and 9q13, which is one of the most common variants of the normal karyotype of chromosome 9 (inv[9]). This hiPSC line maintains an identical karyotype to that of the parental cells. MUi040-A expressed pluripotency markers and demonstrated the capacity to differentiate into all three germ layers. This cell line offers a valuable in vitro for studying the pathophysiology of senile systemic amyloidosis and for evaluating potential therapeutic approaches.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103866"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145506774","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}
Stem cell researchPub Date : 2025-12-01Epub Date: 2025-10-21DOI: 10.1016/j.scr.2025.103859
Sai Wei , Ruiting Ma , Ting Zhang , Luan Wen
{"title":"Targeted large-fragment genomic deletion in human pluripotent stem cells (hPSCs) via CRISPR/Cas9","authors":"Sai Wei , Ruiting Ma , Ting Zhang , Luan Wen","doi":"10.1016/j.scr.2025.103859","DOIUrl":"10.1016/j.scr.2025.103859","url":null,"abstract":"<div><div>Large genomic deletions are increasingly recognized as contributors to human disease. Here, we describe a CRISPR/Cas9-based protocol to induce targeted large-fragment deletions in human pluripotent stem cells (hPSCs). Two sgRNAs flanking the target region were designed, synthesized, and co-delivered with Cas9 protein into single-cell hPSCs via electroporation. Deletions were identified using junction PCR. Successfully edited cell pools were expanded as single-cell colonies and assessed for genomic deletion, stem cell identity, karyotype integrity, and tri-lineage differentiation capacity. This approach provides a robust method for modeling genomic deletions in hPSCs for disease research and functional genomics.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103859"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145410195","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}
Stem cell researchPub Date : 2025-12-01Epub Date: 2025-10-29DOI: 10.1016/j.scr.2025.103864
Eline Van Vooren , Filip Van den Broeck , Esperanza Daal , Mehrnaz Ghazvini , Julie De Zaeytijd , Bart P. Leroy , Miriam Bauwens , Elfride De Baere
{"title":"Generation and characterization of three human induced pluripotent stem cell lines (UGENTi005, UGENTi006 and UGENTi007) from patients with autosomal dominant adult-onset maculopathy due to RPE65 variant c.1555G>A, p.(E519K)","authors":"Eline Van Vooren , Filip Van den Broeck , Esperanza Daal , Mehrnaz Ghazvini , Julie De Zaeytijd , Bart P. Leroy , Miriam Bauwens , Elfride De Baere","doi":"10.1016/j.scr.2025.103864","DOIUrl":"10.1016/j.scr.2025.103864","url":null,"abstract":"<div><div>The <em>RPE65</em> gene encodes a key enzyme in the visual cycle, a process essential for vision. While biallelic variants are known to cause severe, autosomal recessive, early-onset inherited retinal disease (IRD), we recently implicated a monoallelic founder variant in <em>RPE65</em> c.1555G>A p.(E519K) in an autosomal dominant adult-onset maculopathy, a distinct IRD phenotype. Blood samples from three patients who are heterozygous for this novel missense variant were used to generate induced pluripotent stem cells (iPSCs). These iPSCs have been thoroughly characterized and will be differentiated into various retinal cell types to investigate the underlying disease mechanisms and assess potential therapeutic strategies.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103864"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145459961","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}
{"title":"Generation of induced pluripotent stem cells (NIMHi018-A) from a Parkinson’s disease patient harbouring a heterozygous missense mutation for PINK1 variant c.1208G > A, p.Trp403Ter","authors":"Roon Banerjee , Rituparna Ghanty , Vikram Holla , Nitish Kamble , Ravi Yadav , Pramod Kumar Pal , Indrani Datta","doi":"10.1016/j.scr.2025.103849","DOIUrl":"10.1016/j.scr.2025.103849","url":null,"abstract":"<div><div>The PTEN-induced kinase 1 (PINK1) gene mutation is the second most prevalent young-onset Parkinson disease (YOPD) characterized by early onset of motor symptoms that are often indistinguishable from other causes of PD. Induced pluripotent stem cells (iPSCs) were derived from peripheral blood mononuclear cells of a PD patient with PINK1 variant c.1208G > A, p.Trp403Ter using Sendai-virus reprogramming. PD diagnosis was confirmed via the Unified Parkinson’s Disease Rating Scale (UPDRS). Characterization of the iPSC line ensured self-renewal and pluripotency. This resource serves as a valuable platform for drug screening and elucidating the pathophysiology of this mutation, facilitating advancements in PD research.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103849"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145269970","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}