Pub Date : 2025-12-15DOI: 10.1016/j.scr.2025.103890
Min Lin , Jia Luo , Miao-Miao Liu, Yi-Qiao Chen, Pei-Quan Zhao , Ping Fei
Familial exudative vitreoretinopathy (FEVR) is an inherited disease of retinal vascular development, and mutations in the LRP5 gene are associated with this disease. In this study, we generated a new induced pluripotent stem cell (iPSC) line, SJTUXHi003-A, from a patient with a novel copy number variation (CNV), exons 19–21 deletion in LRP5. This iPSC line exhibited a normal male karyotype with positive pluripotency markers, and could differentiate into three germ layers in vitro, providing a valuable model for studying the pathological mechanism of FEVR in vitro.
{"title":"An induced pluripotent stem cell line (SJTUXHi003-A) derived from a patient with copy number variation in the gene LRP5 causing familial exudative vitreoretinopathy","authors":"Min Lin , Jia Luo , Miao-Miao Liu, Yi-Qiao Chen, Pei-Quan Zhao , Ping Fei","doi":"10.1016/j.scr.2025.103890","DOIUrl":"10.1016/j.scr.2025.103890","url":null,"abstract":"<div><div>Familial exudative vitreoretinopathy (FEVR) is an inherited disease of retinal vascular development, and mutations in the <em>LRP5</em> gene are associated with this disease. In this study, we generated a new induced pluripotent stem cell (iPSC) line, SJTUXHi003-A, from a patient with a novel copy number variation (CNV), exons 19–21 deletion in <em>LRP5</em>. This iPSC line exhibited a normal male karyotype with positive pluripotency markers, and could differentiate into three germ layers in vitro, providing a valuable model for studying the pathological mechanism of FEVR in vitro.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103890"},"PeriodicalIF":0.7,"publicationDate":"2025-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913179","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}
Pub Date : 2025-12-15DOI: 10.1016/j.scr.2025.103889
A.B. Garcia-Delgado , S. Bega , R. Campos-Cuerva , L. Martín-Banderas , C. Paradas , B. Fernandez-Muñoz
Nearly 90% of patients with amyotrophic lateral sclerosis (ALS) do not carry mutations in genes previously associated with the disease and are classified as sporadic cases with no identified genetic cause. In this study, peripheral blood mononuclear cells from a patient with sporadic ALS were reprogrammed to generate the human induced pluripotent stem cell (iPSC) line ESi148-A. The line was thoroughly characterized for pluripotency and genomic stability. These cells provide a valuable resource for generating 3D biomodels, such as cortical or spinal cord organoids, to investigate disease mechanisms and develop novel therapeutic approaches for sporadic ALS.
{"title":"Generation of the human iPSC line ESi148-A from a patient with sporadic amyotrophic lateral sclerosis","authors":"A.B. Garcia-Delgado , S. Bega , R. Campos-Cuerva , L. Martín-Banderas , C. Paradas , B. Fernandez-Muñoz","doi":"10.1016/j.scr.2025.103889","DOIUrl":"10.1016/j.scr.2025.103889","url":null,"abstract":"<div><div>Nearly 90% of patients with amyotrophic lateral sclerosis (ALS) do not carry mutations in genes previously associated with the disease and are classified as sporadic cases with no identified genetic cause. In this study, peripheral blood mononuclear cells from a patient with sporadic ALS were reprogrammed to generate the human induced pluripotent stem cell (iPSC) line <em>ESi148-A</em>. The line was thoroughly characterized for pluripotency and genomic stability. These cells provide a valuable resource for generating 3D biomodels, such as cortical or spinal cord organoids, to investigate disease mechanisms and develop novel therapeutic approaches for sporadic ALS.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103889"},"PeriodicalIF":0.7,"publicationDate":"2025-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145790917","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}
Pub Date : 2025-12-15DOI: 10.1016/j.scr.2025.103888
Ana Lucia Cuadros Gamboa , Filippo Chiesa , Paride Pelucchi , Martina Bertocchi , Anna Ripepi , Eleonora Piscitelli , Marta Peruzzi , Niccolò Nassi , Cinzia Arzilli , Monica Annunziata , Amelia Morrone , Viviana Tritto , Paola Riva , Giuseppe Santamaria , Isabella Ceccherini , Roberta Benfante , Simona Di Lascio , Diego Fornasari
Congenital Central Hypoventilation Syndrome (CCHS) is a rare, life-threatening genetic disorder of the autonomic nervous system characterized by alveolar hypoventilation and generalized dysautonomia. CCHS is caused by heterozygous PHOX2B mutations, predominantly polyalanine repeat expansion (95% of cases) and, less frequently, frameshift mutations (5%). To address the lack of disease models, we generated five human induced pluripotent stem cell (hiPSC) lines derived from patients carrying +5Ala, +6Ala and +11Ala expansion mutations. These hiPSC lines exhibited undifferentiated hPSC phenotype, pluripotency, normal karyotype, and retention of the pathogenic genotype, providing a reliable in vitro platform for elucidating CCHS molecular mechanisms and disease pathogenesis.
{"title":"Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B gene","authors":"Ana Lucia Cuadros Gamboa , Filippo Chiesa , Paride Pelucchi , Martina Bertocchi , Anna Ripepi , Eleonora Piscitelli , Marta Peruzzi , Niccolò Nassi , Cinzia Arzilli , Monica Annunziata , Amelia Morrone , Viviana Tritto , Paola Riva , Giuseppe Santamaria , Isabella Ceccherini , Roberta Benfante , Simona Di Lascio , Diego Fornasari","doi":"10.1016/j.scr.2025.103888","DOIUrl":"10.1016/j.scr.2025.103888","url":null,"abstract":"<div><div>Congenital Central Hypoventilation Syndrome (CCHS) is a rare, life-threatening genetic disorder of the autonomic nervous system characterized by alveolar hypoventilation and generalized dysautonomia. CCHS is caused by heterozygous <em>PHOX2B</em> mutations, predominantly polyalanine repeat expansion (95% of cases) and, less frequently, frameshift mutations (5%). To address the lack of disease models, we generated five human induced pluripotent stem cell (hiPSC) lines derived from patients carrying +5Ala, +6Ala and +11Ala expansion mutations. These hiPSC lines exhibited undifferentiated hPSC phenotype, pluripotency, normal karyotype, and retention of the pathogenic genotype, providing a reliable <em>in vitro</em> platform for elucidating CCHS molecular mechanisms and disease pathogenesis.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103888"},"PeriodicalIF":0.7,"publicationDate":"2025-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145790918","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}
Pub Date : 2025-12-12DOI: 10.1016/j.scr.2025.103887
Roohallah Ghodrat , Haribaskar Ramachandran , Barbara Hildebrandt , Stephanie Binder , Andrea Rossi , Andreas S. Reichert
The PTEN induced kinase 1 (PINK1) gene is crucial for mitophagy and mitochondrial quality control. Mutations in the PINK1 gene are associated with several neurological disorders. To decipher the role of PINK1-mediated mitophagy in human induced pluripotent stem cells (hiPSCs) and in their differentiated counterparts, we used CRISPR/Cpf1 and generated a human iPSC line with homozygous out-of-frame deletions by targeting exon 6 of the PINK1 gene. The generated homozygous PINK1 mutant cell line showed normal cell morphology, genomic stability, and expression of classical stem cell markers. Furthermore, the cells can be differentiated efficiently into the three germ layers.
{"title":"CRISPR/Cpf1-mediated editing of PINK1 in induced pluripotent stem cells","authors":"Roohallah Ghodrat , Haribaskar Ramachandran , Barbara Hildebrandt , Stephanie Binder , Andrea Rossi , Andreas S. Reichert","doi":"10.1016/j.scr.2025.103887","DOIUrl":"10.1016/j.scr.2025.103887","url":null,"abstract":"<div><div>The PTEN induced kinase 1 (<em>PINK1</em>) gene is crucial for mitophagy and mitochondrial quality control. Mutations in the <em>PINK1</em> gene are associated with several neurological disorders. To decipher the role of PINK1-mediated mitophagy in human induced pluripotent stem cells (hiPSCs) and in their differentiated counterparts, we used CRISPR/Cpf1 and generated a human iPSC line with homozygous out-of-frame deletions by targeting exon 6 of the <em>PINK1</em> gene. The generated homozygous <em>PINK1</em> mutant cell line showed normal cell morphology, genomic stability, and expression of classical stem cell markers. Furthermore, the cells can be differentiated efficiently into the three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103887"},"PeriodicalIF":0.7,"publicationDate":"2025-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145775852","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}
Pub Date : 2025-12-11DOI: 10.1016/j.scr.2025.103886
Valeria Fernandez Vallone , Kristin Fischer , Judit Küchler , Franziska Diekmann , Georg Hansmann , Harald Stachelscheid
Heritable pulmonary arterial hypertension (HPAH) and underlying pulmonary vascular disease (PVD) are often caused by TBX4 mutations—either loss- or gain-of-function—which are a leading cause of childhood-onset PAH. The clinically heterogeneous TBX4 syndrome can include skeletal anomalies (e.g., small patella syndrome) and developmental lung disease (DEVLD) (Galambos, 2019). TBX4 is expressed in lung mesenchymal cells such as matrix fibroblasts, pericytes, and smooth muscle cells, all contributing to PAH pathogenesis (Karolak, 2023, Maldonado, 2025). Our five patient-derived TBX4-mutant hiPSC lines provide a powerful model to investigate cell-specific mechanisms in HPAH/DEVLD-PH and support precision drug discovery and therapy development targeting TBX4-related abnormalities.
{"title":"Generation of 5 hiPSC lines from pediatric patients with Heritable pulmonary arterial hypertension (HPAH) caused by heterozygous mutations in the TBX4 gene","authors":"Valeria Fernandez Vallone , Kristin Fischer , Judit Küchler , Franziska Diekmann , Georg Hansmann , Harald Stachelscheid","doi":"10.1016/j.scr.2025.103886","DOIUrl":"10.1016/j.scr.2025.103886","url":null,"abstract":"<div><div>Heritable pulmonary arterial hypertension (HPAH) and underlying pulmonary vascular disease (PVD) are often caused by TBX4 mutations—either loss- or gain-of-function—which are a leading cause of childhood-onset PAH. The clinically heterogeneous TBX4 syndrome can include skeletal anomalies (e.g., small patella syndrome) and developmental lung disease (DEVLD) (<span><span>Galambos, 2019</span></span>). TBX4 is expressed in lung mesenchymal cells such as matrix fibroblasts, pericytes, and smooth muscle cells, all contributing to PAH pathogenesis (<span><span>Karolak, 2023</span></span>, <span><span>Maldonado, 2025</span></span>). Our five patient-derived TBX4-mutant hiPSC lines provide a powerful model to investigate cell-specific mechanisms in HPAH/DEVLD-PH and support precision drug discovery and therapy development targeting TBX4-related abnormalities.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103886"},"PeriodicalIF":0.7,"publicationDate":"2025-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145775779","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}
Pub Date : 2025-12-09DOI: 10.1016/j.scr.2025.103882
Yangmeihui Wang , Wen Zheng , Biying Qiu , Qiuyu Chen , Tao Yang , Sijie Zhou , Jun Liu , Bin Yang
Cas9, an RNA-guided nuclease, enables precise genome editing by recognizing sgRNA-complementary sequences and cleaving target DNA. In this study, we used CRISPR/Cas9-mediated homologous recombination to integrate a loxP-flanked STOP cassette-controlled Cas9 expression framework (LSL-Cas9) into the AAVS1 safe-harbor locus of human embryonic stem cells. The resulting cell line, SMUDHe010-A-3F, allows Cre-dependent activation of Cas9 but remains inactive in the absence of Cre recombinase. Karyotype and tri-lineage differentiation confirmed genomic stability and pluripotency. This line provides a valuable platform for organoid gene editing and studies of human development and disease.
{"title":"Generation of a human embryonic stem cell line (SMUDHe010-A-3F) with Cas9 expression cassette integrated at the AAVS1 locus via CRISPR/Cas9-mediated homologous recombination","authors":"Yangmeihui Wang , Wen Zheng , Biying Qiu , Qiuyu Chen , Tao Yang , Sijie Zhou , Jun Liu , Bin Yang","doi":"10.1016/j.scr.2025.103882","DOIUrl":"10.1016/j.scr.2025.103882","url":null,"abstract":"<div><div>Cas9, an RNA-guided nuclease, enables precise genome editing by recognizing sgRNA-complementary sequences and cleaving target DNA. In this study, we used CRISPR/Cas9-mediated homologous recombination to integrate a loxP-flanked STOP cassette-controlled Cas9 expression framework (LSL-Cas9) into the AAVS1 safe-harbor locus of human embryonic stem cells. The resulting cell line, SMUDHe010-A-3F, allows Cre-dependent activation of Cas9 but remains inactive in the absence of Cre recombinase. Karyotype and tri-lineage differentiation confirmed genomic stability and pluripotency. This line provides a valuable platform for organoid gene editing and studies of human development and disease.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103882"},"PeriodicalIF":0.7,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145790932","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}
Pub Date : 2025-12-07DOI: 10.1016/j.scr.2025.103885
Desi Veleva , Mohammad M. Chowdhury , Merve Ay , Andrew B.J. Prowse , Michael Nafisinia
Phenylketonuria (PKU), a common autosomal recessive metabolic disorder, arises from diverse pathogenic variants in the phenylalanine hydroxylase (PAH) gene, causing phenylalanine accumulation and neurological impairment. The vast spectrum of over 2,200 PAH variants and frequent compound heterozygosity complicate genotype-phenotype prediction, highlighting the need for deeper mechanistic insight. We generated human induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells of four PKU patients with distinct PAH genotypes using non-integrating Sendai viruses. The iPSC lines were validated for pluripotency, vector clearance, and genomic integrity. These patient-specific iPSCs provide a valuable platform for elucidating PKU pathophysiology and advancing personalized therapeutic development.
{"title":"Developing iPSC models from phenylketonuria patients with varying PAH gene mutations","authors":"Desi Veleva , Mohammad M. Chowdhury , Merve Ay , Andrew B.J. Prowse , Michael Nafisinia","doi":"10.1016/j.scr.2025.103885","DOIUrl":"10.1016/j.scr.2025.103885","url":null,"abstract":"<div><div>Phenylketonuria (PKU), a common autosomal recessive metabolic disorder, arises from diverse pathogenic variants in the phenylalanine hydroxylase (PAH) gene, causing phenylalanine accumulation and neurological impairment. The vast spectrum of over 2,200 PAH variants and frequent compound heterozygosity complicate genotype-phenotype prediction, highlighting the need for deeper mechanistic insight. We generated human induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells of four PKU patients with distinct PAH genotypes using non-integrating Sendai viruses. The iPSC lines were validated for pluripotency, vector clearance, and genomic integrity. These patient-specific iPSCs provide a valuable platform for elucidating PKU pathophysiology and advancing personalized therapeutic development.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103885"},"PeriodicalIF":0.7,"publicationDate":"2025-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145715784","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}
Pub Date : 2025-12-05DOI: 10.1016/j.scr.2025.103879
Min-Yu Lan , Sheng-Jye Lim , Huai-En Lu , Meng-Han Tsai
Spinocerebellar Ataxia Type 8 (SCA8) is a rare, dominantly inherited neurodegenerative disorder characterized by progressive ataxia and nystagmus, and dysarthria. SCA8 is caused by bidirectional CTG/CAG repeat expansion in the ATXN8OS and ATXN8 gene. Peripheral blood mononuclear cells obtained from a SCA8 patient were successfully transformed into induced pluripotent stem cells (iPSC) (KCGMHi003-A) using Sendai virus. Our approach provided a resource for future pathogenesis study and drug screening of SCA8.
{"title":"Generation of an induced pluripotent stem cell line (KCGMHi003-A) from a patient with spinocerebellar ataxia type 8 (SCA8)","authors":"Min-Yu Lan , Sheng-Jye Lim , Huai-En Lu , Meng-Han Tsai","doi":"10.1016/j.scr.2025.103879","DOIUrl":"10.1016/j.scr.2025.103879","url":null,"abstract":"<div><div>Spinocerebellar Ataxia Type 8 (SCA8) is a rare, dominantly inherited neurodegenerative disorder characterized by progressive ataxia and nystagmus, and dysarthria. SCA8 is caused by bidirectional CTG/CAG repeat expansion in the ATXN8OS and ATXN8 gene. Peripheral blood mononuclear cells obtained from a SCA8 patient were successfully transformed into induced pluripotent stem cells (iPSC) (KCGMHi003-A) using Sendai virus. Our approach provided a resource for future pathogenesis study and drug screening of SCA8.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103879"},"PeriodicalIF":0.7,"publicationDate":"2025-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145683629","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}
Pub Date : 2025-12-01DOI: 10.1016/j.scr.2025.103878
Dongli Yang , Jun Chen , Jerry H. Juratli , Andre Monteiro da Rocha , Allison Schley , Nadia R. Sutton
Advanced age is a significant risk factor for cardiovascular diseases. Previously, we reported two female human induced pluripotent stem cell (hiPSC) lines. Here, we report generation and characterization of two hiPSC lines from peripheral blood mononuclear cells (PBMCs) obtained from young (18-year-old) and older (80-year-old) male donors. The two male hiPSC lines express pluripotency markers, possess normal (46, XY) karyotypes, and have trilineage differentiation potential. Both lines genetically match their parental PBMCs. These lines provide a vital resource for regenerative medicine and development of human-specific models to understand aging-associated diseases and to investigate the epigenetic mechanisms that are involved.
{"title":"Generation and characterization of two human induced pluripotent stem cell lines from young and older male donors","authors":"Dongli Yang , Jun Chen , Jerry H. Juratli , Andre Monteiro da Rocha , Allison Schley , Nadia R. Sutton","doi":"10.1016/j.scr.2025.103878","DOIUrl":"10.1016/j.scr.2025.103878","url":null,"abstract":"<div><div>Advanced age is a significant risk factor for cardiovascular diseases. Previously, we reported two female human induced pluripotent stem cell (hiPSC) lines. Here, we report generation and characterization of two hiPSC lines from peripheral blood mononuclear cells (PBMCs) obtained from young (18-year-old) and older (80-year-old) male donors. The two male hiPSC lines express pluripotency markers, possess normal (46, XY) karyotypes, and have trilineage differentiation potential. Both lines genetically match their parental PBMCs. These lines provide a vital resource for regenerative medicine and development of human-specific models to understand aging-associated diseases and to investigate the epigenetic mechanisms that are involved.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103878"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145669920","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}
Pub Date : 2025-12-01DOI: 10.1016/j.scr.2025.103877
Thomas A. Bos , Elizaveta Polyakova , Marco C. DeRuiter , Emile Nühn , Monique R.M. Jongbloed
Cardiofaciocutaneous syndrome is a genetic disorder characterized by congenital heart disease, developmental delays and ectodermal abnormalities. Cardiofaciocutaneous syndrome is caused by pathogenic variants in the genes of the RAS/MAPK pathway, particularly BRAF. However, the mechanism by which congenital heart defects arise in RASopathy patients is still poorly understood. Therefore, using non-integrating episomal vectors, we generated three hiPSC clones from peripheral blood mononuclear cells from a 33-year old male carrying a c.1897 T > C missense variant in the BRAF gene, who was born with pulmonary stenosis, tricuspid atresia and hypoplastic right ventricle, consistent with a functional single ventricle.
{"title":"Generation of three induced pluripotent stem cell clones from a functional single ventricle patient carrying the BRAF c.1897 T > C variant","authors":"Thomas A. Bos , Elizaveta Polyakova , Marco C. DeRuiter , Emile Nühn , Monique R.M. Jongbloed","doi":"10.1016/j.scr.2025.103877","DOIUrl":"10.1016/j.scr.2025.103877","url":null,"abstract":"<div><div>Cardiofaciocutaneous syndrome is a genetic disorder characterized by congenital heart disease, developmental delays and ectodermal abnormalities. Cardiofaciocutaneous syndrome is caused by pathogenic variants in the genes of the RAS/MAPK pathway, particularly <em>BRAF</em>. However, the mechanism by which congenital heart defects arise in RASopathy patients is still poorly understood. Therefore, using non-integrating episomal vectors, we generated three hiPSC clones from peripheral blood mononuclear cells from a 33-year old male carrying a c.1897 T > C missense variant in the <em>BRAF</em> gene, who was born with pulmonary stenosis, tricuspid atresia and hypoplastic right ventricle, consistent with a functional single ventricle.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103877"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145683628","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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