Pub Date : 2025-12-24DOI: 10.1016/j.scr.2025.103894
Laurie Martineau , Vincent Roy , Sabrina Bellenfant , Mathieu Blais , François Gros-Louis , Nicolas Dupré
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a rare inherited neurodegenerative disorder causing progressive spasticity, ataxia and peripheral neuropathy, leading to significant motor and sensory impairments. To advance the study of ARSACS pathogenesis and therapeutic development, we generated eight induced pluripotent stem cell (iPSC) lines from patient-derived fibroblasts or peripheral blood mononuclear cells (PBMCs) using non-integrating Sendai virus-based reprogramming method and covering four different SACS gene mutations. These iPSC lines provide a powerful platform to investigate disease mechanisms, evaluate therapeutic candidates, and support the development of personalized medicine approaches for ARSACS.
{"title":"Generation of eight human induced pluripotent stem cells lines from patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)","authors":"Laurie Martineau , Vincent Roy , Sabrina Bellenfant , Mathieu Blais , François Gros-Louis , Nicolas Dupré","doi":"10.1016/j.scr.2025.103894","DOIUrl":"10.1016/j.scr.2025.103894","url":null,"abstract":"<div><div>Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a rare inherited neurodegenerative disorder causing progressive spasticity, ataxia and peripheral neuropathy, leading to significant motor and sensory impairments. To advance the study of ARSACS pathogenesis and therapeutic development, we generated eight induced pluripotent stem cell (iPSC) lines from patient-derived fibroblasts or peripheral blood mononuclear cells (PBMCs) using non-integrating Sendai virus-based reprogramming method and covering four different <em>SACS</em> gene mutations. These iPSC lines provide a powerful platform to investigate disease mechanisms, evaluate therapeutic candidates, and support the development of personalized medicine approaches for ARSACS.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103894"},"PeriodicalIF":0.7,"publicationDate":"2025-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145966987","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 : 2025-12-23DOI: 10.1016/j.scr.2025.103896
Meng Fan , Meiyan Zhao , Wenjun Su , Zhantong Tang , Wenheng Sun , Tao Zhou , Pengyu Liu
Perilipin 2 (PLIN2) dysregulation drives metabolic pathologies including non-alcoholic fatty liver disease (NAFLD). To enable real-time tracking of PLIN2 dynamics, we established a human induced pluripotent stem cell (hiPSC) line with endogenous GFP2 knock-in at the PLIN2 locus via CRISPR/Cas9-mediated non-homologous end joining (NHEJ). This PLIN2-GFP2 reporter line demonstrated synchronous fluorescence and transcriptional expression validated by flow cytometry. Genomic integrity was confirmed by normal diploid karyotype (46, XY). Pluripotency markers (POU5F1, SOX2, NANOG) were stably expressed. Furthermore, the cells possessed the ability to differentiate into three germ layers.
As the first reported endogenous PLIN2 reporter in human stem cells, this model overcomes limitations of antibody-based detection and transgenic overexpression systems, preserving native regulatory mechanisms. The model provides a physiologically relevant platform for: (1) live monitoring of LD-mitochondria interactions, (2) high-throughput compound screening for metabolic disorders, and (3) modeling NAFLD pathogenesis in vitro, advancing precision therapeutics and mechanistic disease modeling.
{"title":"Generation of a PLIN2-GFP2-P2A-Puro human induced pluripotent stem cell line (SEUi001-A) via CRISPR/Cas9-mediated gene editing technology","authors":"Meng Fan , Meiyan Zhao , Wenjun Su , Zhantong Tang , Wenheng Sun , Tao Zhou , Pengyu Liu","doi":"10.1016/j.scr.2025.103896","DOIUrl":"10.1016/j.scr.2025.103896","url":null,"abstract":"<div><div>Perilipin 2 (PLIN2) dysregulation drives metabolic pathologies including non-alcoholic fatty liver disease (NAFLD). To enable real-time tracking of PLIN2 dynamics, we established a human induced pluripotent stem cell (hiPSC) line with endogenous GFP2 knock-in at the <em>PLIN2</em> locus via CRISPR/Cas9-mediated non-homologous end joining (NHEJ). This PLIN2-GFP2 reporter line demonstrated synchronous fluorescence and transcriptional expression validated by flow cytometry. Genomic integrity was confirmed by normal diploid karyotype (46, XY). Pluripotency markers (<em>POU5F1, SOX2, NANOG</em>) were stably expressed. Furthermore, the cells possessed the ability to differentiate into three germ layers.</div><div>As the first reported endogenous PLIN2 reporter in human stem cells, this model overcomes limitations of antibody-based detection and transgenic overexpression systems, preserving native regulatory mechanisms. The model provides a physiologically relevant platform for: (1) live monitoring of LD-mitochondria interactions, (2) high-throughput compound screening for metabolic disorders, and (3) modeling NAFLD pathogenesis in vitro, advancing precision therapeutics and mechanistic disease modeling.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103896"},"PeriodicalIF":0.7,"publicationDate":"2025-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913193","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 : 2025-12-22DOI: 10.1016/j.scr.2025.103895
Yau Chung Low , Cameron L. McKnight , Diana Stojanovski , David R. Thorburn , Ann E. Frazier
Sengers syndrome is a rare mitochondrial disorder caused by the loss of a nuclear encoded mitochondrial protein, acylglycerol kinase (AGK). Here, we describe the generation of a novel in vitro stem cell model of Sengers syndrome (AGKKO C10) using CRISPR/Cas9 gene editing. This cell line displayed normal characteristics of pluripotent stem cells, including colony morphology, expression of pluripotency markers, trilineage potential, and no karyotypic abnormalities. Together with the parental H9 hESC control line, the AGKKO C10 line can ultimately be used for investigation of disease mechanisms and drug testing.
{"title":"Generation of a pluripotent human AGK knockout embryonic stem cell model (WAe009-A-3C) of Sengers syndrome","authors":"Yau Chung Low , Cameron L. McKnight , Diana Stojanovski , David R. Thorburn , Ann E. Frazier","doi":"10.1016/j.scr.2025.103895","DOIUrl":"10.1016/j.scr.2025.103895","url":null,"abstract":"<div><div>Sengers syndrome is a rare mitochondrial disorder caused by the loss of a nuclear encoded mitochondrial protein, acylglycerol kinase (AGK). Here, we describe the generation of a novel <em>in vitro</em> stem cell model of Sengers syndrome (<em>AGK</em><sup>KO</sup> C10) using CRISPR/Cas9 gene editing. This cell line displayed normal characteristics of pluripotent stem cells, including colony morphology, expression of pluripotency markers, trilineage potential, and no karyotypic abnormalities. Together with the parental H9 hESC control line, the <em>AGK</em><sup>KO</sup> C10 line can ultimately be used for investigation of disease mechanisms and drug testing.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103895"},"PeriodicalIF":0.7,"publicationDate":"2025-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913219","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 : 2025-12-19DOI: 10.1016/j.scr.2025.103892
Gemma Gasparini , Carolin Kraus , Ejona Rusha , Tanja Orschmann , Saskia B. Wortmann , Johannes H. Mayr , Anna Ardissone , Arcangela Iuso
Beta-propeller Protein-Associated Neurodegeneration (BPAN) is a rare X-linked dominant disorder (ORPHA:329284) characterized by brain iron accumulation, developmental delay, seizures, motor dysfunction, and progressive neurodegeneration. It results from pathogenic variants in WDR45, encoding WDR45/WIPI4, a key autophagy protein. No curative treatment exists; management is supportive. As BPAN pathogenesis remains unclear, research aims to elucidate its molecular mechanisms and develop targeted therapies. We generated and characterized two induced pluripotent stem cell (iPSC) lines from BPAN patient fibroblasts, providing essential models for studying disease mechanisms and developing effective therapeutic strategies.
{"title":"Generation of two human iPSC lines from fibroblasts of BPAN patients carrying pathogenic variants in the WDR45 gene","authors":"Gemma Gasparini , Carolin Kraus , Ejona Rusha , Tanja Orschmann , Saskia B. Wortmann , Johannes H. Mayr , Anna Ardissone , Arcangela Iuso","doi":"10.1016/j.scr.2025.103892","DOIUrl":"10.1016/j.scr.2025.103892","url":null,"abstract":"<div><div>Beta-propeller Protein-Associated Neurodegeneration (BPAN) is a rare X-linked dominant disorder (ORPHA:329284) characterized by brain iron accumulation, developmental delay, seizures, motor dysfunction, and progressive neurodegeneration. It results from pathogenic variants in<!--> <em>WDR45</em>, encoding WDR45/WIPI4, a key autophagy protein. No curative treatment exists; management is supportive. As BPAN pathogenesis remains unclear, research aims to elucidate its molecular mechanisms and develop targeted therapies. We generated and characterized two induced pluripotent stem cell (iPSC) lines from BPAN patient fibroblasts, providing essential models for studying disease mechanisms and developing effective therapeutic strategies.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103892"},"PeriodicalIF":0.7,"publicationDate":"2025-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913242","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 : 2025-12-19DOI: 10.1016/j.scr.2025.103893
Ning Zhang , Yuanxi Wang , Jian Hou , Yuling Zhang , Yongli Shan , Yanli Hu , Cheng Wang , Yan Long
Dilated cardiomyopathy (DCM), a leading cause of sudden cardiac death and heart failure, represents one of the most common cardiomyopathies in pediatric patients. In this study, we established a pluripotent stem cell (iPSC) line derived from a pediatric DCM patient harboring a heterozygous missense mutation in the TTN (titin) gene and homozygous nonsense mutations in both the PRR32 and RBMXL3 genes. Reprogramming was performed using a non-integrating episomal vector system. The generated iPSC line exhibited characteristic pluripotent morphology, maintained a normal male karyotype, expressed key pluripotency markers, and demonstrated robust trilineage differentiation potential in vivo.
{"title":"Generation of an induced pluripotent stem cell line (SSMCi002-A) from a pediatric dilated cardiomyopathy patient carrying heterozygous mutation in the TTN gene","authors":"Ning Zhang , Yuanxi Wang , Jian Hou , Yuling Zhang , Yongli Shan , Yanli Hu , Cheng Wang , Yan Long","doi":"10.1016/j.scr.2025.103893","DOIUrl":"10.1016/j.scr.2025.103893","url":null,"abstract":"<div><div>Dilated cardiomyopathy (DCM), a leading cause of sudden cardiac death and heart failure, represents one of the most common cardiomyopathies in pediatric patients. In this study, we established a pluripotent stem cell (iPSC) line derived from a pediatric DCM patient harboring a heterozygous missense mutation in the TTN (titin) gene and homozygous nonsense mutations in both the PRR32 and RBMXL3 genes. Reprogramming was performed using a non-integrating episomal vector system. The generated iPSC line exhibited characteristic pluripotent morphology, maintained a normal male karyotype, expressed key pluripotency markers, and demonstrated robust trilineage differentiation potential<!--> <em>in vivo</em>.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103893"},"PeriodicalIF":0.7,"publicationDate":"2025-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913265","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 : 2025-12-17DOI: 10.1016/j.scr.2025.103891
Miju Lee , Yoon-Eun Kim , Wonjue Choi , Songeun Nah , Mira Han , Chan Yeong Heo , Mahito Nakanishi , Jihwan Song
Six human induced pluripotent stem cell (iPSC) lines (IPBi115-A, IPBi116-A, IPBi117-A, IPBi119-A, IPBi124-A, and IPBi129-A) were established from peripheral blood mononuclear cells (PBMCs) of healthy donors from Kazakhstan and Uzbekistan, representing Central Asian populations. These lines retained pluripotency, differentiated into the three germ layers, and showed normal karyotypes, with confirmed Sendai virus clearance, donor-matched STR profiles, and mycoplasma-free status. These iPSC resources expand population diversity for stem cell research and provide valuable platforms for disease modeling and drug screening, supporting human-based approaches in biomedical research.
{"title":"Establishment of six human induced pluripotent stem cell lines from healthy Central Asian donors (IPBi115-A, IPBi116-A, IPBi117-A, IPBi119-A, IPBi124-A, and IPBi129-A)","authors":"Miju Lee , Yoon-Eun Kim , Wonjue Choi , Songeun Nah , Mira Han , Chan Yeong Heo , Mahito Nakanishi , Jihwan Song","doi":"10.1016/j.scr.2025.103891","DOIUrl":"10.1016/j.scr.2025.103891","url":null,"abstract":"<div><div>Six human induced pluripotent stem cell (iPSC) lines (IPBi115-A, IPBi116-A, IPBi117-A, IPBi119-A, IPBi124-A, and IPBi129-A) were established from peripheral blood mononuclear cells (PBMCs) of healthy donors from Kazakhstan and Uzbekistan, representing Central Asian populations. These lines retained pluripotency, differentiated into the three germ layers, and showed normal karyotypes, with confirmed Sendai virus clearance, donor-matched STR profiles, and mycoplasma-free status. These iPSC resources expand population diversity for stem cell research and provide valuable platforms for disease modeling and drug screening, supporting human-based approaches in biomedical research.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103891"},"PeriodicalIF":0.7,"publicationDate":"2025-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913209","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.2025.103890
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}
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