Angela Maria Giada Giovenale , Elisa Maria Turco , Ilaria Ferrone , Chiara Giacometti , Silvia Tomaselli , Edvige Vulcano , Daniela Ferrari , Ornella Candido , Laura Bernardini , Alessandro De Luca , Nadia Trivieri , Elena Binda , Roberta Onesimo , Stefano D’Arrigo , Giuseppe Zampino , Maria Pennuto , Angelo Luigi Vescovi , Jessica Diana Rosati
{"title":"Generation and characterization of the CSSi021-A (15665) human induced pluripotent stem cell line from a Smith-Magenis syndrome patient with a heterozygous RAI1 mutation","authors":"Angela Maria Giada Giovenale , Elisa Maria Turco , Ilaria Ferrone , Chiara Giacometti , Silvia Tomaselli , Edvige Vulcano , Daniela Ferrari , Ornella Candido , Laura Bernardini , Alessandro De Luca , Nadia Trivieri , Elena Binda , Roberta Onesimo , Stefano D’Arrigo , Giuseppe Zampino , Maria Pennuto , Angelo Luigi Vescovi , Jessica Diana Rosati","doi":"10.1016/j.scr.2025.103726","DOIUrl":"10.1016/j.scr.2025.103726","url":null,"abstract":"<div><div>Smith-Magenis syndrome (SMS) is a rare neurodevelopmental disorder caused by haploinsufficiency of the Retinoic Acid Induced 1 (RAI1) gene located at 17p11.2. It is estimated that approximately 90% of patients have a 17p11.2 deletion, including the RAI1 gene, while the remaining 10% exhibit a heterozygous mutation in the RAI1 gene. In this study, we report the generation of a human induced pluripotent stem cell (hiPSC) line derived from a 14-year-old female with an RAI1 mutation, which led to the onset of the SMS phenotype, starting from primary fibroblasts.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103726"},"PeriodicalIF":0.8,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143891156","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}
Hang Chen , Yuqin Liang , Yuan Liang , Yuexi Chen , Xiaoxue Li , Ruting Zhang , Chunwen Duan , Wenwei Li , Zekai Cui , Jianing Gu , Chengcheng Ding , Xihao Sun , Jiansu Chen
{"title":"Generation of a gene-corrected isogenic human iPS cell line (CSUASOi006-A-2) from a retinitis pigmentosa patient using CRISPR/Cas9 technology","authors":"Hang Chen , Yuqin Liang , Yuan Liang , Yuexi Chen , Xiaoxue Li , Ruting Zhang , Chunwen Duan , Wenwei Li , Zekai Cui , Jianing Gu , Chengcheng Ding , Xihao Sun , Jiansu Chen","doi":"10.1016/j.scr.2025.103727","DOIUrl":"10.1016/j.scr.2025.103727","url":null,"abstract":"<div><div>Retinitis pigmentosa (RP) is a heterogeneous group of hereditary eye disorders characterized by a progressive degeneration of the light-sensing photoreceptor cells in the retina. Currently, there are no effective treatments. In a previous study, we generated a human induced pluripotent stem (iPS) cell line (CSUASOi006-A) from an RP patient carrying a PRPF8 (c.C5792T) mutation. In this study, we corrected the c.5792C > T mutation in the PRPF8 gene using CRISPR/Cas9 technology and generated an isogenic control cell line (CSUASOi006-A-2). This provides an important cellular resource for RP research.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103727"},"PeriodicalIF":0.8,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143895875","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}
Shuoting Wang , Yashu Feng , Qi Xing , Tiancheng Zhou , Jiajun Liu
{"title":"Generation of an anti-CD19 CAR knock-in human induced pluripotent stem cell line using CRISPR/Cas9 technology","authors":"Shuoting Wang , Yashu Feng , Qi Xing , Tiancheng Zhou , Jiajun Liu","doi":"10.1016/j.scr.2025.103721","DOIUrl":"10.1016/j.scr.2025.103721","url":null,"abstract":"<div><div>Chimeric antigen receptor T cell (CAR-T) therapy represents a major breakthrough in the field of tumor immunotherapy. CD19-targeted CAR-T cells (CD19 CAR-T) have emerged as an important therapeutic approach for treating B-cell malignancies. We successfully constructed a human induced pluripotent stem cell (iPSC) line with an anti-CD19 CAR knock-in using CRISPR/Cas9-mediated gene targeting technology. This cell line can stably express the CAR gene while maintaining its typical stem cell morphology and normal karyotype. Furthermore, this cell line possesses multilineage differentiation potential and can be directionally differentiated into various chimeric antigen receptor-expressing immune cells for targeting CD19-positive tumors.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103721"},"PeriodicalIF":0.8,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143891155","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}
Katarzyna A. Ludwik , Judit Küchler , David Sebinger , Robert Opitz , Peter Kühnen , Harald Stachelscheid
{"title":"Generation of two human induced pluripotent stem cell lines from Allan-Herndon-Dudley syndrome (AHDS) patients with SLC16A2:G401R or SLC16A2: H192R mutation","authors":"Katarzyna A. Ludwik , Judit Küchler , David Sebinger , Robert Opitz , Peter Kühnen , Harald Stachelscheid","doi":"10.1016/j.scr.2025.103725","DOIUrl":"10.1016/j.scr.2025.103725","url":null,"abstract":"<div><div>Allan-Herndon-Dudley syndrome (AHDS) is an X-linked disorder characterized by profound psychomotor impairment. It is caused by mutations in the <em>SLC16A2</em> gene, which encodes monocarboxylate transporter 8 (MCT8), a crucial thyroid hormone transporter. Here we report generation of two male patient-derived iPSC lines harboring either SLC16A2:G401R or SLC16A2:H192R.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103725"},"PeriodicalIF":0.8,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143891154","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}
Jinsol Jeong , Kwang-Hwan Choi , Dong-Kyung Lee , Yelim Ahn , Chang-Kyu Lee
{"title":"Pig embryonic stem cells with porcine specific-MSGN1 upstream region-based reporter system for monitoring paraxial mesoderm differentiation","authors":"Jinsol Jeong , Kwang-Hwan Choi , Dong-Kyung Lee , Yelim Ahn , Chang-Kyu Lee","doi":"10.1016/j.scr.2025.103724","DOIUrl":"10.1016/j.scr.2025.103724","url":null,"abstract":"<div><div>Pig embryonic stem cells were introduced with an <em>MSGN1</em> upstream region-based reporter system, composed of <em>EGFP</em> sequence under porcine-specific <em>MSGN1</em> promoter (p<em>MSGN1</em>), through electroporation. The engineered cell line maintained pluripotency similar to that of the parental cell line, and reporter activity was confirmed upon the induction of the paraxial mesoderm. The p<em>MSGN1-EGFP</em> reporter system is a valuable tool for monitoring the differentiation process of the paraxial mesoderm and analyzing induction efficiency, providing insight into developmental mechanisms.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103724"},"PeriodicalIF":0.8,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143864518","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}
Kerstin Filippi , Isabelle Riße , Luke M. Judge , Bruce R. Conklin , Bernd K. Fleischmann , Michael Hesse
{"title":"Generation and characterization of a human induced pluripotent stem cell (iPSC) line from a patient with BAG3 P209L myofibrillar myopathy-6","authors":"Kerstin Filippi , Isabelle Riße , Luke M. Judge , Bruce R. Conklin , Bernd K. Fleischmann , Michael Hesse","doi":"10.1016/j.scr.2025.103718","DOIUrl":"10.1016/j.scr.2025.103718","url":null,"abstract":"<div><div>Bag3 is important for protein homeostasis in mechanically stressed muscle proteins as member of the chaperone-assisted selective autophagy (CASA) complex. Patients with <em>BAG3</em> <!-->P209L myofibrillar myopathy-6 (MFM6) carry a point mutation (p.P209L; c.626C>T) in the <em>BAG3</em> gene and display clinical features such as restrictive cardiomyopathy, skeletal muscle dystrophy and polyneuropathy. To obtain a representative MFM6-model, biopsies from a female <em>BAG3</em> <!-->P209L-patient were used to generate a human induced pluripotent stem cell (iPSC) line. For quality control, germ layer differentiation and pluripotency analyses were conducted. This iPSC allows us to characterize the pathophysiology of MFM6 and develop innovative experimental therapeutic strategies.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103718"},"PeriodicalIF":0.8,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143895874","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Generation of a MYL3 knockout stem cell line (WAe009-A-1H) by episomal vector-based CRISPR/Cas9 system","authors":"Rui Bai , Wei Fu , Xiaojie Hou , Juyi Wan","doi":"10.1016/j.scr.2025.103723","DOIUrl":"10.1016/j.scr.2025.103723","url":null,"abstract":"<div><div>The Myosin light chain 3 (MYL3) gene encodes the ventricular essential light chain isoform, which is an important modulator of sarcomeric myosin cross-bridge kinetics. Variants in MYL3 are a cause of hypertrophic cardiomyopathy and dilated cardiomyopathy with cardiac failure and sudden cardiac death (SCD). To further elucidate the involvement of MYL3 in the pathogenesis of cardiomyopathies, we have created a MYL3 knockout human embryonic stem cell line using the CRISPR/Cas9 system. Notably, this MYL3-knockout cell line retains normal morphology, pluripotency, and karyotype. This resource provides a valuable tool for investigating MYL3-related health and disease.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103723"},"PeriodicalIF":0.8,"publicationDate":"2025-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143886026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Generation of iPSC lines (ICHi001-A, ICHi002-A, ICHi003-A, ICHi004-A) from four patients carrying Titin truncating variants associated with dilated cardiomyopathy","authors":"Cecilia Thairi , Rebecca Artioli , Marianna Paulis , Camilla Galli , Simon Cotič , Alessia Paldino , Ilenia Marino , Gianfranco Sinagra , Chiara Collesi , Matteo Dal Ferro , Elisa Di Pasquale","doi":"10.1016/j.scr.2025.103719","DOIUrl":"10.1016/j.scr.2025.103719","url":null,"abstract":"<div><div>Inherited dilated cardiomyopathy (iDCM) is a disease of the heart muscle, characterized by left ventricle enlargement, systolic dysfunction and arrhythmias. iDCM represents a common cause of heart failure and the most frequent cause of heart transplantation. Among the causative genes, <em>TTN</em>, encoding the sarcomeric protein Titin, represents the most prevalent (about 25 % of cases). The heterogeneous clinical manifestations and variable response to therapy represent a major challenge in patients’ clinical management. To deepen the knowledge of this disease, we generated and fully characterized induced Pluripotent Stem Cell lines from 4 iDCM patients carrying 4 different truncating variants of <em>TTN</em> gene.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103719"},"PeriodicalIF":0.8,"publicationDate":"2025-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143874203","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}
Yi-Ing Chen , Arianne Caudal , Amira G. Flores-Banuelos , Christopher D. Yan , Walter G. Park , Mohan Viswanathan , Joseph C. Wu
{"title":"Generation of two induced pluripotent stem cell lines from breast cancer patients carrying BRCA1 mutations","authors":"Yi-Ing Chen , Arianne Caudal , Amira G. Flores-Banuelos , Christopher D. Yan , Walter G. Park , Mohan Viswanathan , Joseph C. Wu","doi":"10.1016/j.scr.2025.103716","DOIUrl":"10.1016/j.scr.2025.103716","url":null,"abstract":"<div><div>Haploinsufficiency of <em>BRCA1</em> increases the risk of various cancers due to its critical functions in cell cycle checkpoint regulation and DNA repair. This study generated and characterized two induced pluripotent stem cell (iPSC) lines derived from breast cancer patients with mutations in the <em>BRCA1</em> gene (c.676del and c.5096G>A). Both lines exhibited typical iPSC morphology, karyotype, pluripotency marker expression, and trilineage differentiation capabilities. <em>BRCA1</em>-mutated iPSCs provide a valuable resource to investigate pathogenic mechanisms and develop personalized medicine.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103716"},"PeriodicalIF":0.8,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143868921","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}
Nina Härting , Katarzyna A. Ludwik , Regina Jahn , Frank J. Kaiser , Harald Stachelscheid
{"title":"Generation of hiPSC lines with fusion tagged thyroid hormone receptor α isoforms to study isoform-specific actions of TRα1 and TRα2","authors":"Nina Härting , Katarzyna A. Ludwik , Regina Jahn , Frank J. Kaiser , Harald Stachelscheid","doi":"10.1016/j.scr.2025.103720","DOIUrl":"10.1016/j.scr.2025.103720","url":null,"abstract":"<div><div>The role of the nuclear thyroid hormone receptor TRα1 as a mediator of thyroid hormone action on target gene expression is well understood. However, the function of the TRα2 splicing isoform, which does not bind thyroid hormones, remains unexplored. As no reliable antibodies are available to investigate TRα1 and TRα2 specifically, we introduced small fusion tags into the <em>THRA</em> locus of the male healthy donor iPSC lines BIHi001-B and BIHi005-A by CRISPR/Cas9-mediated genome editing. Consequently, the modified lines express C-terminally tagged TRα1-2xHA or TRα2-3xFLAG. These genome-edited lines facilitate the investigation of isoform-specific actions of TRα in different cell types.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103720"},"PeriodicalIF":0.8,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143868920","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}