Nayara Sousa da Silva , Agnieszka D’Antonio-Chronowska , Reyna Hernandez-Benitez , Angelina Rose McCarron , Esra Karaca , Kai Fang , Juan Carlos Izpisua Belmonte , Athanasia D. Panopoulos , Keiichiro Suzuki , Kelly A. Frazer
{"title":"Generation of a set of genetically modified long QT syndrome induced pluripotent stem cell lines carrying knock-in variants rs120074178 (KCNQ1 c.569G > A; p.Arg190Gln) and rs137854600 (SCN5A c.4865G > A; p.Arg1622Gln) and isogenic control lines","authors":"Nayara Sousa da Silva , Agnieszka D’Antonio-Chronowska , Reyna Hernandez-Benitez , Angelina Rose McCarron , Esra Karaca , Kai Fang , Juan Carlos Izpisua Belmonte , Athanasia D. Panopoulos , Keiichiro Suzuki , Kelly A. Frazer","doi":"10.1016/j.scr.2025.103755","DOIUrl":"10.1016/j.scr.2025.103755","url":null,"abstract":"<div><div>Long QT syndrome (LQTS) is an inherited channelopathy characterized by life-threatening arrhythmias. LQTS has many subtypes defined by the gene that contains the mutation, including LQT1 (<em>KCNQ1</em>), LQT2 (<em>KCNH2</em>), and LQT3 (<em>SCN5A</em>). Here, we used CRISPR/Cas9 technology to generate five isogenic human induced pluripotent stem cell (iPSC) lines, one line harboring an LQT1 variant rs120074178 (<em>KCNQ1</em> c.569G > A), two lines harboring an LQT3 variant rs137854600 (<em>SCN5A</em> c.4865G > A), and two derived control lines.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103755"},"PeriodicalIF":0.8,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144366354","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}
Marianna Paulis , Maddalena Di Nardo , Lucia Susani , Angela La Grua , Antonio Musio
{"title":"Generation and characterization of human iPSC lines from two patients with therapy-resistant epilepsy carrying nonsense heterozygous variants in the SMC1A gene","authors":"Marianna Paulis , Maddalena Di Nardo , Lucia Susani , Angela La Grua , Antonio Musio","doi":"10.1016/j.scr.2025.103752","DOIUrl":"10.1016/j.scr.2025.103752","url":null,"abstract":"<div><div>Different <em>SMC1A</em> variants contribute to a spectrum of phenotypes. Missense or small in-frame deletions are associated with Cornelia de Lange syndrome (CdLS) while <em>SMC1A</em> truncation variants have been detected in subjects with a clinical phenotype different from CdLS, with moderate-to-severe intellectual disability (ID) and pharmaco-resistant epilepsy. We generated two human iPSC lines from two patients with pharmaco-resistant epilepsy carrying nonsense heterozygous c.901C > T (p.E323*) and c.3103C > T (p.R1035*) variants in the <em>SMC1A</em> gene. These cell lines will be a valuable resource for <em>in vitro</em> disease modeling and drug testing for pharmaco-resistant epilepsy due to <em>SMC1A</em> variants.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103752"},"PeriodicalIF":0.8,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144314398","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":"A South Asian Indian PRKAG2 patient–derived induced pluripotent stem cell (iPSC) line to model glycogen storage-associated hypertrophic cardiomyopathy","authors":"Saptashwa Chakrabarti , Harshil Chittora , Pratul Kumar Jain , Hisham Ahamed , Perundurai S. Dhandapany","doi":"10.1016/j.scr.2025.103747","DOIUrl":"10.1016/j.scr.2025.103747","url":null,"abstract":"<div><div>PRKAG2 is the ɣ2 regulatory subunit of the 5′ AMP-activated protein kinase involved in cellular ATP metabolic regulation. Mutations in the <em>PRKAG2</em> gene are known to cause glycogen storage-associated hypertrophic cardiomyopathy (HCM). We identified a South Asian Indian patient with HCM harbouring the <em>PRKAG2</em> c. 905 G > A (p. R302Q) and generated an induced pluripotent stem cell (iPSC) line using peripheral blood mononuclear cells (PBMCs). The generated iPSC line displayed embryonic stem cell morphology, pluripotency markers, normal karyotype, and differentiated into three germ layers. This Indian patient-specific iPSC line will help in understanding the ancestry-specific differences in the pathophysiology of HCM.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103747"},"PeriodicalIF":0.8,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144272426","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 a LEUTX-2A-mCherry knock-in H1 human embryonic stem cell line using CRISPR/Cas9 system","authors":"Xiu Yu , Zezhong Su","doi":"10.1016/j.scr.2025.103754","DOIUrl":"10.1016/j.scr.2025.103754","url":null,"abstract":"<div><div>LEUTX is exclusively expressed at the 8-cell stage and serves as a key regulator of human embryonic genome activation. Induced 8-cell-like cells (8CLCs) derived from pluripotent stem cells offer a tractable model to dissect the molecular transition from pluripotency to totipotency. However, current 8CLC induction protocols are hampered by low efficiency and cellular heterogeneity. To overcome these limitations, we developed a fluorescent reporter system that dynamically monitors endogenous LEUTX expression, facilitating the purification and functional characterization of bona fide 8CLCs. This tool enables systematic interrogation of the regulatory networks underlying totipotency acquisition.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103754"},"PeriodicalIF":0.8,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144263157","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}
Jiqiang Ma , Zhongwei Zhuang , Cheng Yang , Bei Zhang , Kuiming Zhang
{"title":"Derivation of induced pluripotent stem cell TUSMi012-A from a 54-year-old Chinese Han with gliocytoma","authors":"Jiqiang Ma , Zhongwei Zhuang , Cheng Yang , Bei Zhang , Kuiming Zhang","doi":"10.1016/j.scr.2025.103753","DOIUrl":"10.1016/j.scr.2025.103753","url":null,"abstract":"<div><div>A 54-year-old male gliocytoma patient donated peripheral blood mononuclear cells (PBMCs). These cells were reprogrammed using a non-integrating Sendai Virus with OKSM (OCT3/4, SOX2, KLF4, and c-MYC) transcription factors. The resulting iPSCs showed pluripotency markers via immunocytochemistry, maintained a normal karyotype, and could differentiate into three germ layers in vitro. This iPSC line is a valuable tool for studying gliocytoma pathogenesis and developing treatments.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103753"},"PeriodicalIF":0.8,"publicationDate":"2025-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144280808","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}
Shiwen Weng , Lu Liu , Qian Ren , Qun Wang , Wei Shan
{"title":"Establishment of a human induced pluripotent stem cell (iPSC) line from a patient harboring a TSC1 gene mutation","authors":"Shiwen Weng , Lu Liu , Qian Ren , Qun Wang , Wei Shan","doi":"10.1016/j.scr.2025.103749","DOIUrl":"10.1016/j.scr.2025.103749","url":null,"abstract":"<div><div>The tuberous sclerosis complex 1 (TSC1) gene encodes for the growth inhibitory protein, hamartin, and has been clinically implicated in tuberous sclerosis complex (TSC) and associated epilepsy. In this study, we present an induced pluripotent stem cell (iPSC) line derived from a patient with epilepsy and tuberous sclerosis, carrying the TSC1 c.2626-2(IVS20) A > G variant. Peripheral blood mononuclear cells from the patient were successfully reprogrammed into iPSCs, which maintained a normal karyotype, expressed markers of hPSCs, and demonstrated the ability to differentiate into all three germ layers in vivo. This iPSC line serves as a valuable resource for investigating the pathogenic mechanisms underlying epilepsy.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103749"},"PeriodicalIF":0.8,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144280807","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}
Kangkang Wu , Chunli Wang , Huiyi Hu , Ying Shen , Yucan Zheng , Guorui Hu , Zhifeng Liu
{"title":"Generation of an iPSC line (DPNJMUi002-A) from a progressive familial intrahepatic cholestasis 3 (PFIC3) patient with a heterozygous mutation in the ABCB4 gene","authors":"Kangkang Wu , Chunli Wang , Huiyi Hu , Ying Shen , Yucan Zheng , Guorui Hu , Zhifeng Liu","doi":"10.1016/j.scr.2025.103745","DOIUrl":"10.1016/j.scr.2025.103745","url":null,"abstract":"<div><div>progressive familial intrahepatic cholestasis 3 (PFIC3) caused by mutations in <em>ABCB4</em> gene is a rare lethal autosomal recessive liver disease. Here, we detail the reprogramming of peripheral blood mononuclear cells (PBMCs) using non-integrative Sendai virus to produce induced pluripotent stem cells (iPSCs) from a child carrying the <em>ABCB4</em> mutation. The obtained iPSC presented normal karyotype, high expression of pluripotency markers and the capacity to differentiate into cells of three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103745"},"PeriodicalIF":0.8,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144255085","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}
Federica Feo , Silvia Falliano , Anna Caciotti , Marina Rinaldi , Alessia Caroli , Laura Giunti , Martino Calamai , Elena Procopio , Renzo Guerrini , Amelia Morrone , Rodolfo Tonin
{"title":"Generation of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS gene","authors":"Federica Feo , Silvia Falliano , Anna Caciotti , Marina Rinaldi , Alessia Caroli , Laura Giunti , Martino Calamai , Elena Procopio , Renzo Guerrini , Amelia Morrone , Rodolfo Tonin","doi":"10.1016/j.scr.2025.103746","DOIUrl":"10.1016/j.scr.2025.103746","url":null,"abstract":"<div><div>Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder (LSD) caused by a deficiency of enzyme N-acetylgalactosamine-6-sulfatase (GALNS), characterised by systemic skeletal dysplasia and joint abnormalities with respiratory, cardiac and visceral manifestations. We generated a human induced pluripotent stem cell (hiPSC) line derived from MPS IVA patient’s fibroblasts. The patient was compound heterozygous for the known p.(Gly116Val) and p.(Gly290Ser) in the <em>GALNS</em> gene. We used a reprogramming RNA-based method. This hiPSC line was positive for “Yamanaka” factors and able to differentiate into all three germ layers, confirming its pluripotency potential.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103746"},"PeriodicalIF":0.8,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144240312","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}
Jiyoon Lee , Meghan Hanley , Shiqiao Ye , Yang Yu , Aaron Argall , Ming-Tao Zhao
{"title":"Characterization of an induced pluripotent stem cell line (NCHi024-A) from a male infant with bicuspid aortic valve","authors":"Jiyoon Lee , Meghan Hanley , Shiqiao Ye , Yang Yu , Aaron Argall , Ming-Tao Zhao","doi":"10.1016/j.scr.2025.103751","DOIUrl":"10.1016/j.scr.2025.103751","url":null,"abstract":"<div><div>Bicuspid aortic valve is one of the most common congenital heart defects which have only two leaflets instead of three. NCHi024-A is an induced pluripotent stem cell (iPSC) line derived from peripheral blood mononuclear cells (PBMCs) of a male infant with a bicuspid aortic valve. The line exhibits normal iPSC morphology, normal karyotype, and donor-matched identity. Markers of undifferentiated iPSC and differentiation into ectoderm, mesoderm, and endoderm were validated through immunofluorescence staining. NCHi024-A was tested negative for transgenes and mycoplasma contamination. This iPSC line can be differentiated into various types of cells and used for studying aortic valve disease.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103751"},"PeriodicalIF":0.8,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144229722","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}
Tim F. Grüner , Haribaskar Ramachandran , Anitha C. Thomas , Barbara Hildebrandt , Sven Gläsker , Jochen Dobner , Andrea Rossi
{"title":"CRISPR/Cas9-mediated editing of VHL in induced pluripotent stem cells: A model for early cell fate in von Hippel-Lindau syndrome","authors":"Tim F. Grüner , Haribaskar Ramachandran , Anitha C. Thomas , Barbara Hildebrandt , Sven Gläsker , Jochen Dobner , Andrea Rossi","doi":"10.1016/j.scr.2025.103748","DOIUrl":"10.1016/j.scr.2025.103748","url":null,"abstract":"<div><div>The von Hippel–Lindau (VHL) tumor suppressor gene is crucial for cellular homeostasis, and its loss leads to VHL syndrome. To model early effects of VHL deficiency, we used CRISPR/Cas9 to generate human iPSC lines with heterozygous or homozygous out-of-frame deletions in exon 1. Both clones showed normal morphology, genomic stability, expression of undifferentiated markers, and tri-lineage differentiation potential. These models offer a valuable system to study early lineage specification and tumor initiation linked to VHL loss.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103748"},"PeriodicalIF":0.8,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144212617","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}