Pub Date : 2025-01-04DOI: 10.1016/j.scr.2025.103652
David Wu , Amit Manhas , Chikage Noishiki , Dipti Tripathi , Lu Liu , Naima Turbes , Dilip Thomas , Karim Sallam , Jason T. Lee , Nazish Sayed
Long COVID, or post-acute sequelae of SARS-CoV-2 infection, leads to vascular dysfunction, which contributes to the chronic multi-organ damage often seen in affected patients. Long COVID, a global health concern is associated with increased thrombotic risk, also known as COVID-19-associated coagulopathy (CAC). Here, we derived an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a long COVID patient. This iPSC line showed normal morphology, maintained pluripotency, had a stable karyotype, and demonstrated the ability to differentiate into the three germ layers (ectoderm, endoderm, and mesoderm). This line provides a valuable tool for modeling long COVID and exploring mechanisms underlying multi-organ dysfunction.
{"title":"Generation of induced pluripotent stem cell line from a patient with long COVID","authors":"David Wu , Amit Manhas , Chikage Noishiki , Dipti Tripathi , Lu Liu , Naima Turbes , Dilip Thomas , Karim Sallam , Jason T. Lee , Nazish Sayed","doi":"10.1016/j.scr.2025.103652","DOIUrl":"10.1016/j.scr.2025.103652","url":null,"abstract":"<div><div>Long COVID, or post-acute sequelae of SARS-CoV-2 infection, leads to vascular dysfunction, which contributes to the chronic multi-organ damage often seen in affected patients. Long COVID, a global health concern is associated with increased thrombotic risk, also known as COVID-19-associated coagulopathy (CAC). Here, we derived an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a long COVID patient. This iPSC line showed normal morphology, maintained pluripotency, had a stable karyotype, and demonstrated the ability to differentiate into the three germ layers (ectoderm, endoderm, and mesoderm). This line provides a valuable tool for modeling long COVID and exploring mechanisms underlying multi-organ dysfunction.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103652"},"PeriodicalIF":0.8,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143011728","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}
Pub Date : 2025-01-03DOI: 10.1016/j.scr.2025.103651
Ouhui Li , Yuting Zhen , Chao Sun , Yanlin Ma , Qi Li , Luan Wen
KDM5D is a gene implicated in spermatogenic failure and sex-related differences in colon cancer progression, though its role in spermatogenesis remains unclear. We successfully generated a KDM5D knockout human embryonic stem cells using CRISPR/Cas9 technology. This knockout cell line provides a valuable model for studying KDM5D’s function in spermatogenesis and its influence on sex differences in various diseases.
{"title":"Generation of a KDM5D knockout human embryonic stem cell line with CRISPR/Cas9 technology","authors":"Ouhui Li , Yuting Zhen , Chao Sun , Yanlin Ma , Qi Li , Luan Wen","doi":"10.1016/j.scr.2025.103651","DOIUrl":"10.1016/j.scr.2025.103651","url":null,"abstract":"<div><div><em>KDM5D</em> is a gene implicated in spermatogenic failure and sex-related differences in colon cancer progression, though its role in spermatogenesis remains unclear. We successfully generated a <em>KDM5D</em> knockout human embryonic stem cells using CRISPR/Cas9 technology. This knockout cell line provides a valuable model for studying KDM5D’s function in spermatogenesis and its influence on sex differences in various diseases.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103651"},"PeriodicalIF":0.8,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142955355","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}
Pub Date : 2024-12-31DOI: 10.1016/j.scr.2024.103650
Ginell N. Ranpura , Mira Holliday , Serena Li , Samantha B. Ross , Emma S. Singer , Stuart T. Fraser , Richard D. Bagnall , Christopher Semsarian , Seakcheng Lim
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited cardiac disease characterised by adrenergic-induced arrhythmias. The leading causes of CPVT are pathogenic variants in cardiac ryanodine receptor 2 (RYR2) and rarely, in cardiac calsequestrin-2 (CASQ2) genes, which are major components of Ca2+ handling in cardiac myocytes. This resource builds upon an established induced pluripotent stem cell line generated from a family with autosomal dominant CPVT due to a heterozygous variant in CASQ2 c.539A > G, p.Lys180Arg (CIAUi003-A) (Ross et al., 2019). The current iPSC line was genetically modified using CRISPR/Cas9 to correct the pathogenic c.539A > G variant creating a CRISPR-corrected isogenic control line (CIAUi003-A-1).
{"title":"Generation of an isogenic CRISPR/Cas9-corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia with a heterozygous variant in cardiac calsequestrin-2","authors":"Ginell N. Ranpura , Mira Holliday , Serena Li , Samantha B. Ross , Emma S. Singer , Stuart T. Fraser , Richard D. Bagnall , Christopher Semsarian , Seakcheng Lim","doi":"10.1016/j.scr.2024.103650","DOIUrl":"10.1016/j.scr.2024.103650","url":null,"abstract":"<div><div>Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited cardiac disease characterised by adrenergic-induced arrhythmias. The leading causes of CPVT are pathogenic variants in cardiac ryanodine receptor 2 (<em>RYR2</em>) and rarely, in cardiac calsequestrin-2 (<em>CASQ2</em>) genes, which are major components of Ca<sup>2+</sup> handling in cardiac myocytes. This resource builds upon an established induced pluripotent stem cell line generated from a family with autosomal dominant CPVT due to a heterozygous variant in <em>CASQ2</em> c.539A > G, p.Lys180Arg (CIAUi003-A) (<span><span>Ross et al., 2019</span></span>). The current iPSC line was genetically modified using CRISPR/Cas9 to correct the pathogenic c.539A > G variant creating a CRISPR-corrected isogenic control line (CIAUi003-A-1).</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103650"},"PeriodicalIF":0.8,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143011725","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}
Pub Date : 2024-12-31DOI: 10.1016/j.scr.2024.103639
Nayeon Lee , Haneul Noh , Chong Kun Cheon
Mucopolysaccharidosis Type Ⅱ, as Known as Hunter syndrome, is a rare X-liked genetic disease caused by mutations in iduronate-2-sulfatase (IDS) gene. We obtained peripheral blood mononuclear cells (PBMCs) from a patient with a severe type of Hunter syndrome carrying c.418 + 495_1006 + 1304 deletion in the IDS gene. We generated an induced pluripotent stem cell (iPSC) line (PNUSCRi005-A hiPSCs) from the PBMCs of the patient using non-integrative Sendai virus. The hiPSCs exhibited embryonic stem cell-like characteristics, showed differentiation properties into three germ layers, and had a normal karyotype.
{"title":"Human induced pluripotent stem cell line (PNUSCRi005-A) generated from severe type of Hunter syndrome patient carrying exonic deletion (exon 4–7 del) in in human iduronate 2-sulfatase gene","authors":"Nayeon Lee , Haneul Noh , Chong Kun Cheon","doi":"10.1016/j.scr.2024.103639","DOIUrl":"10.1016/j.scr.2024.103639","url":null,"abstract":"<div><div>Mucopolysaccharidosis Type Ⅱ, as Known as Hunter syndrome, is a rare X-liked genetic disease caused by mutations in iduronate-2-sulfatase (IDS) gene. We obtained peripheral blood mononuclear cells (PBMCs) from a patient with a severe type of Hunter syndrome carrying c.418 + 495_1006 + 1304 deletion in the IDS gene. We generated an induced pluripotent stem cell (iPSC) line (PNUSCRi005-A hiPSCs) from the PBMCs of the patient using non-integrative Sendai virus. The hiPSCs exhibited embryonic stem cell-like characteristics, showed differentiation properties into three germ layers, and had a normal karyotype.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103639"},"PeriodicalIF":0.8,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142966974","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}
A human induced pluripotent stem cell (iPSC) line was generated from patient with Kennedy Disease (KD), who carried the CAG repeat expansion mutation in AR gene. Peripheral blood mononuclear cells (PBMCs) were reprogrammed using non-integrating delivery of KFL4, OCT4, SOX2, BCL-XL and c-MYC. The iPSC line expresses pluripotency markers, displays a normal karyotype, and is capable of differentiate into three germ layers in vitro. This iPSC line represents a valuable cell model for studing KD in humans.
{"title":"Generation of an induced pluripotent stem cell line from a Kennedy Disease patient with AR mutation","authors":"Meng Zhang, Rui Liu, Pengpeng Sun, Chengsen Zhang, Jingdong Wang, Changjiang Li","doi":"10.1016/j.scr.2024.103649","DOIUrl":"10.1016/j.scr.2024.103649","url":null,"abstract":"<div><div>A human induced pluripotent stem cell (iPSC) line was generated from patient with Kennedy Disease (KD), who carried the CAG repeat expansion mutation in AR gene. Peripheral blood mononuclear cells (PBMCs) were reprogrammed using non-integrating delivery of KFL4, OCT4, SOX2, BCL-XL and c-MYC. The iPSC line expresses pluripotency markers, displays a normal karyotype, and is capable of differentiate into three germ layers in vitro. This iPSC line represents a valuable cell model for studing KD in humans.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103649"},"PeriodicalIF":0.8,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928222","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}
Pub Date : 2024-12-30DOI: 10.1016/j.scr.2024.103648
Yunsong Jiang , Liani G. Devito , Francesco Muntoni , Lyn Healy , Francesco Saverio Tedesco
Ullrich congenital muscular dystrophy (UCMD) represents the most severe subtype of collagen VI-related dystrophies (COL6-RDs), a spectrum of rare extracellular matrix disorders affecting skeletal muscle and connective tissue. Here, we generated an induced pluripotent stem cell (iPSC) line (CRICKi021-A) from a UCMD patient with de novo dominant-negative mutation in COL6A1 gene by reprogramming dermal fibroblasts using a non-integrating mRNA-based protocol. The resulting human iPSCs displayed normal morphology, expressed pluripotency-associated markers and differentiated into the three germ layers. This new COL6A1-mutant iPSC line can be employed for disease modelling and for investigating potential therapies for COL6-RDs.
{"title":"Generation of a human induced pluripotent stem cell line (CRICKi021-A) from a patient with Ullrich congenital muscular dystrophy carrying a pathogenic mutation in the COL6A1 gene","authors":"Yunsong Jiang , Liani G. Devito , Francesco Muntoni , Lyn Healy , Francesco Saverio Tedesco","doi":"10.1016/j.scr.2024.103648","DOIUrl":"10.1016/j.scr.2024.103648","url":null,"abstract":"<div><div>Ullrich congenital muscular dystrophy (UCMD) represents the most severe subtype of collagen VI-related dystrophies (COL6-RDs), a spectrum of rare extracellular matrix disorders affecting skeletal muscle and connective tissue. Here, we generated an induced pluripotent stem cell (iPSC) line (CRICKi021-A) from a UCMD patient with <em>de novo</em> dominant-negative mutation in <em>COL6A1</em> gene by reprogramming dermal fibroblasts using a non-integrating mRNA-based protocol. The resulting human iPSCs displayed normal morphology, expressed pluripotency-associated markers and differentiated into the three germ layers. This new <em>COL6A1</em>-mutant iPSC line can be employed for disease modelling and for investigating potential therapies for COL6-RDs.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103648"},"PeriodicalIF":0.8,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143159730","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}
Pub Date : 2024-12-28DOI: 10.1016/j.scr.2024.103642
Amina Saleem , Mingyu Wei , Muhammad Khawar Abbas , Siyao Zhang , Jiaqi Fan , Yang Xian , Hongfeng Jiang
Pyruvate Dehydrogenase Kinase1 (PDK1) belongs to the family of kinases, regulates diverse metabolic processes. PDK1 is a susceptibility locus for heart failure via thinning of ventricle walls, and enlarged atria and ventricles. We successfully developed a PDK1 knockout (PDK1−/−) human embryonic stem cell (hESC) line using an episomal vector-based CRISPR/Cas9 system explore the role of PDK in human heart development. This PDK1-KO hESC line-maintained stem cell-like morphology, pluripotency, and normal karyotype and can differentiate into all three germ layers in vivo. This cell line will be a valuable tool for future research on the role of PDK1 in heart development.
{"title":"Generation of a PDK-1 knockout human embryonic stem cell line by CRISPR/(WAe009-A-2K) Cas9 editing","authors":"Amina Saleem , Mingyu Wei , Muhammad Khawar Abbas , Siyao Zhang , Jiaqi Fan , Yang Xian , Hongfeng Jiang","doi":"10.1016/j.scr.2024.103642","DOIUrl":"10.1016/j.scr.2024.103642","url":null,"abstract":"<div><div>Pyruvate Dehydrogenase Kinase1 (PDK1) belongs to the family of kinases, regulates diverse metabolic processes. PDK1 is a susceptibility locus for heart failure via thinning of ventricle walls, and enlarged atria and ventricles. We successfully developed a PDK1 knockout (PDK1<sup>−</sup>/<sup>−</sup>) human embryonic stem cell (hESC) line using an episomal vector-based CRISPR/Cas9 system explore the role of PDK in human heart development. This PDK1-KO hESC line-maintained stem cell-like morphology, pluripotency, and normal karyotype and can differentiate into all three germ layers in vivo. This cell line will be a valuable tool for future research on the role of PDK1 in heart development.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103642"},"PeriodicalIF":0.8,"publicationDate":"2024-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142972146","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}
Pub Date : 2024-12-22DOI: 10.1016/j.scr.2024.103637
Mariangela Pappadà , Sara Melija , Martina Facchini , Mara Martino , Sofia Minarini , Anna Caproni , Chiara Nordi , Paola Rimessi , Rita Selvatici , Peggy Marconi
Spinocerebellar ataxia type 1 (SCA1) is one of six SCAs related to the expansion of a CAG repeat, encoding glutamine. Induced pluripotent stem cells were generated by reprogramming fibroblasts isolated from a patient affected by SCA1, through the transduction of three viral vectors derived from a non-integrative virus. UNIFEi001-A cell line presents an ESC-like morphology, is vector-free, expresses pluripotency markers, presents a normal karyotype and can differentiate into the three germ layers. These cells can be further differentiated into neural stem cells and neurons to serve as a cellular model.
{"title":"Generation of a human induced pluripotent stem cell line (UNIFEi001-A) from a patient with Spinocerebellar ataxia type 1 (SCA1)","authors":"Mariangela Pappadà , Sara Melija , Martina Facchini , Mara Martino , Sofia Minarini , Anna Caproni , Chiara Nordi , Paola Rimessi , Rita Selvatici , Peggy Marconi","doi":"10.1016/j.scr.2024.103637","DOIUrl":"10.1016/j.scr.2024.103637","url":null,"abstract":"<div><div>Spinocerebellar ataxia type 1 (SCA1) is one of six SCAs related to the expansion of a CAG repeat, encoding glutamine. Induced pluripotent stem cells were generated by reprogramming fibroblasts isolated from a patient affected by SCA1, through the transduction of three viral vectors derived from a non-integrative virus. UNIFEi001-A cell line presents an ESC-like morphology, is vector-free, expresses pluripotency markers, presents a normal karyotype and can differentiate into the three germ layers. These cells can be further differentiated into neural stem cells and neurons to serve as a cellular model.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103637"},"PeriodicalIF":0.8,"publicationDate":"2024-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075538","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}
Pub Date : 2024-12-01Epub Date: 2024-12-07DOI: 10.1016/j.scr.2024.103622
Yihui Li, Mingxia Du, Zibing Jin
{"title":"Corrigendum to \"Generation of ID1/3 knockout human embryonic stem cell lines (WAe009-A-2A and WAe009-A-2B) derived from H9 using CRISPR/Cas9\" [Stem Cell Research 81 (2024) 103569].","authors":"Yihui Li, Mingxia Du, Zibing Jin","doi":"10.1016/j.scr.2024.103622","DOIUrl":"10.1016/j.scr.2024.103622","url":null,"abstract":"","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":" ","pages":"103622"},"PeriodicalIF":0.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142795069","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}
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