Pub Date : 2025-01-07DOI: 10.1016/j.scr.2025.103659
Chuan-Sheng Hou , zhe zhu , Xue-Feng Xie , Xue-Qiang Lu , Zhuo Chen , Hao-Yu Cui , Hao Wu , Bei Zhang , Chuan-Sheng Hou
Prostate cancer (PCa) is the most common malignant tumor of the male reproductive system. In this study, we generated an induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells (PBMCs) of a 67-year-old male patient and diagnosed with PC. The established iPSCs were confirmed by flow cytometry and immunofluorescence. Furthermore, the iPSC line has a normal chromosomal karyotype and has the potential of spontaneous differentiation into three germ layers in vitro. The iPSC line will be a useful tool for investigating the pathogenesis mechanisms of PCa.
{"title":"Derivation of induced pluripotent stem cell FDZSi002-A from a 67-year-old Chinese Han Prostate cancer patient","authors":"Chuan-Sheng Hou , zhe zhu , Xue-Feng Xie , Xue-Qiang Lu , Zhuo Chen , Hao-Yu Cui , Hao Wu , Bei Zhang , Chuan-Sheng Hou","doi":"10.1016/j.scr.2025.103659","DOIUrl":"10.1016/j.scr.2025.103659","url":null,"abstract":"<div><div>Prostate cancer (PCa) is the most common malignant tumor of the male reproductive system. In this study, we generated an induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells (PBMCs) of a 67-year-old male patient and diagnosed with PC. The established iPSCs were confirmed by flow cytometry and immunofluorescence. Furthermore, the iPSC line has a normal chromosomal karyotype and has the potential of spontaneous differentiation into three germ layers in vitro. The iPSC line will be a useful tool for investigating the pathogenesis mechanisms of PCa.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103659"},"PeriodicalIF":0.8,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143042151","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}
Cystic Fibrosis (CF) is a life-shortening disease that is caused by mutations in the CFTR gene, a gene that is expressed in multiple organs. There are several primary tissue models of CF disease, including nasal epithelial cultures and rectal organoids, that are effective in reporting the potential efficacy of mutation-targeted therapies called CFTR modulators. However, there is the well-documented variation in tissue dependent, therapeutic response amongst CF patients, even those with the same CF-causing mutation. Hence, there is an interest in developing strategies for comparing therapeutic efficacy in different organs relative to isogenic controls. In this study, we evaluated the CFTR chloride channel response to the highly effective CFTR modulator: Trikafta, in CF patient specific, iPSC-derived colonic and airway cultures relative to mutation-corrected (non-CF) tissues from that same individual. We measured pharmacological rescue in both tissues. This proof-of-concept study provides a roadmap for future comparisons of patient-specific CF therapeutic responses in both pulmonary and extra-pulmonary systems.
{"title":"Testing organ-specific responses to therapies in tissues differentiated from Cystic Fibrosis patient derived iPSCs","authors":"Abdelkader Daoud , Sunny Xia , Onofrio Laselva , Janet Jiang , Christine E. Bear","doi":"10.1016/j.scr.2025.103653","DOIUrl":"10.1016/j.scr.2025.103653","url":null,"abstract":"<div><div>Cystic Fibrosis (CF) is a life-shortening disease that is caused by mutations in the <em>CFTR</em> gene, a gene that is expressed in multiple organs. There are several primary tissue models of CF disease, including nasal epithelial cultures and rectal organoids, that are effective in reporting the potential efficacy of mutation-targeted therapies called CFTR modulators. However, there is the well-documented variation in tissue dependent, therapeutic response amongst CF patients, even those with the same CF-causing mutation. Hence, there is an interest in developing strategies for comparing therapeutic efficacy in different organs relative to isogenic controls. In this study, we evaluated the CFTR chloride channel response to the highly effective CFTR modulator: Trikafta, in CF patient specific, iPSC-derived colonic and airway cultures relative to mutation-corrected (non-CF) tissues from that same individual. We measured pharmacological rescue in both tissues. This proof-of-concept study provides a roadmap for future comparisons of patient-specific CF therapeutic responses in both pulmonary and extra-pulmonary systems.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103653"},"PeriodicalIF":0.8,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967020","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}
Using the integration-free episomal vector containing the reprogramming components OCT3/4/shp53, Sox2/KLF4, L-MYC/LIN28, and EBNA-1, hematopoietic stem cells obtained from a healthy 33-year-old man were effectively reprogrammed and turned into induced pluripotent stem cells (iPSCs). The reprogrammed iPSCs were grown without the use of feeders. They exhibited a normal karyotype, displayed pluripotency markers, and differentiated into cells from the three germ layers. This DMSCi002-A line may serve as a control for investigating disease mechanisms.
{"title":"Establishing of human induced pluripotent stem cell line DMSCi002-A from the hematopoietic stem cells of a healthy male donor","authors":"Kobkaew Bumroongthai , Chonlada Yodtup , Danai Jantapalaboon , Panapat Phairoh , Supaporn Suparak , Panadda Dhepakson , Alisa Tubsuwan , Sudarat Wongkidakarn","doi":"10.1016/j.scr.2025.103655","DOIUrl":"10.1016/j.scr.2025.103655","url":null,"abstract":"<div><div>Using the integration-free episomal vector containing the reprogramming components OCT3/4/shp53, Sox2/KLF4, L-MYC/LIN28, and EBNA-1, hematopoietic stem cells obtained from a healthy 33-year-old man were effectively reprogrammed and turned into induced pluripotent stem cells (iPSCs). The reprogrammed iPSCs were grown without the use of feeders. They exhibited a normal karyotype, displayed pluripotency markers, and differentiated into cells from the three germ layers. This DMSCi002-A line may serve as a control for investigating disease mechanisms.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103655"},"PeriodicalIF":0.8,"publicationDate":"2025-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142955354","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}
PGK1 (phosphoglycerate kinase-1) is required for ATP production in the body. Mutation in the PGK1 gene causes a rare, inherited metabolic disorder causing deficiency of enzyme PGK1, leading to hemolytic anemia, neurological symptoms, and muscle weakness. We generated induced pluripotent stem cells (iPSCs) from a patient carrying a PGK1 variant by isolating fibroblasts from skin punch biopsy and reprogramming using CytoTune iPS 2.0 Sendai reprogramming kit. The resulting iPSCs had normal karyotype, expressed pluripotent markers, and differentiated into three germ layers in vitro. The iPSC line NIMHi016-A can be used to model neuromuscular disorders.
{"title":"A human induced pluripotent stem cell line, NIMHi016-A, established from fibroblasts of a neuromuscular disease patient carrying PGK1/p. Asn5Lys variant","authors":"Bevinahalli Nanjegowda Nandeesh , Baduvandra Chettiyappa Maheshwari , Madhura Milind Nimonkar , Sekar Deepha , Periyasamy Govindaraj , Bhupesh Mehta , Yogananda S. Markandeya","doi":"10.1016/j.scr.2025.103654","DOIUrl":"10.1016/j.scr.2025.103654","url":null,"abstract":"<div><div>PGK1 (phosphoglycerate kinase-1) is required for ATP production in the body. Mutation in the <em>PGK1</em> gene causes a rare, inherited metabolic disorder causing deficiency of enzyme PGK1, leading to hemolytic anemia, neurological symptoms, and muscle weakness. We generated induced pluripotent stem cells (iPSCs) from a patient carrying a <em>PGK1</em> variant by isolating fibroblasts from skin punch biopsy and reprogramming using CytoTune iPS 2.0 Sendai reprogramming kit. The resulting iPSCs had normal karyotype, expressed pluripotent markers, and differentiated into three germ layers <em>in vitro.</em> The iPSC line NIMHi016-A can be used to model neuromuscular disorders.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103654"},"PeriodicalIF":0.8,"publicationDate":"2025-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142955353","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 : 2025-01-04DOI: 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}
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