Stem cell researchPub Date : 2026-10-01Epub Date: 2026-10-02DOI: 10.1016/j.scr.2026.104110
Jeeyoung Yoon, Yoo Jin Shin, Hanbi Lee, Sun Woo Lim, Ji Hyun Kim, Byung Ha Chung
{"title":"Generation of human induced pluripotent stem cell line (CMCi015-A) from a patient with nephronophthisis harboring compound heterozygous loss-of-function variants in the NPHP4 gene","authors":"Jeeyoung Yoon, Yoo Jin Shin, Hanbi Lee, Sun Woo Lim, Ji Hyun Kim, Byung Ha Chung","doi":"10.1016/j.scr.2026.104110","DOIUrl":"10.1016/j.scr.2026.104110","url":null,"abstract":"<div><div>Nephronophthisis, an autosomal recessive ciliopathy, is a rare genetic kidney disorder characterized by progressive tubulointerstitial fibrosis, corticomedullary cyst formation, and progression to end-stage renal disease. Here, we established a human induced pluripotent stem cell (hiPSC) line from peripheral blood mononuclear cells of an 18-year-old female patient with nephronophthisis harboring compound heterozygous variants in the <em>NPHP4</em> gene. This hiPSC displayed features similar to human embryonic stem cells, including pluripotency-associated markers expression, normal karyotype, and the ability to differentiate into cells representing all three germ layers. The implications of this research extend to the potential development of novel treatments for nephronophthisis.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"96 ","pages":"Article 104110"},"PeriodicalIF":0.6,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149114871","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}
Stem cell researchPub Date : 2026-10-01Epub Date: 2026-10-03DOI: 10.1016/j.scr.2026.104111
Yafei Zhou, Rui Zhou, Wenjun Huang, Siyu Zhang, Hong Lei, Jie Wang, Yanmin Zhang
{"title":"Generation and characterization of a human iPSC line (XACHi022-A) derived from an asymptomatic carrier of the GAA c.2051C > A (p.P684Q) variant","authors":"Yafei Zhou, Rui Zhou, Wenjun Huang, Siyu Zhang, Hong Lei, Jie Wang, Yanmin Zhang","doi":"10.1016/j.scr.2026.104111","DOIUrl":"10.1016/j.scr.2026.104111","url":null,"abstract":"<div><div>Pompe disease is a lysosomal-store age disorder with GAA mutation. We collected a Pompe disease family with c.2051C > A (p.P684Q) and c.2024_2026 delACA (p. N675del) variants in GAA. In this study, we generated a human induced pluripotent stem cell (iPSC) line from an asymptomatic woman carrying c.2051C > A (p.P684Q) variant in GAA. The iPSC line exhibited characteristic stem cell morphology, robust expression of pluripotency and proliferation-associated proteins, a standard karyotype, and the capacity to differentiate into trilineage. The iPSC line can serve as a family-based control for the patient, which provides a well-characterized, patient-derived genetic background that is essential for isogenic control studies.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"96 ","pages":"Article 104111"},"PeriodicalIF":0.6,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149114869","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}
Stem cell researchPub Date : 2026-09-01Epub Date: 2026-08-26DOI: 10.1016/j.scr.2026.104090
B. Malique Jones, Miao Xu, Jizhong Zou, Chengyu Liu, Yaqun Zou, Pankaj Pathak, Richa Madan Lomash, Rodica Stan, Carsten G. Bönnemann, Catherine Z. Chen
{"title":"Establishment of induced pluripotent stem cell line TRNDi045-A-38 carrying homozygous DOK7-related Congenital Myasthenia patient-mutation knock-in variant from parental KOLF2.1J","authors":"B. Malique Jones, Miao Xu, Jizhong Zou, Chengyu Liu, Yaqun Zou, Pankaj Pathak, Richa Madan Lomash, Rodica Stan, Carsten G. Bönnemann, Catherine Z. Chen","doi":"10.1016/j.scr.2026.104090","DOIUrl":"10.1016/j.scr.2026.104090","url":null,"abstract":"<div><div>DOK7-related Congenital Myasthenic Syndrome (CMS) is a rare genetic neuromuscular junction disorder. This is one of the most common of the recessive forms of CMS, often presenting with more static proximal weakness (hence also referred to as limb girdle CMS). Whole-genome sequencing of affected patients implicates frameshift duplication mutations in <em>DOK7</em> as drivers of impaired neuromuscular-junction signaling. In this study, we generated a human induced pluripotent stem cell (hiPSC) line TRNDi045-A-38 from the KOLF2.1J reference line, engineered to carry homozygous <em>DOK7</em> c.1124_1127dupTGCC mutation knock-in using CRISPR/Cas9. This iPSC line could be used for in vitro disease modeling to study disease pathophysiology and for therapeutic development.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"95 ","pages":"Article 104090"},"PeriodicalIF":0.6,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148866838","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}
Stem cell researchPub Date : 2026-09-01Epub Date: 2026-08-26DOI: 10.1016/j.scr.2026.104089
Giuliana Lezzoche, Evangelia Ntotsia, Sandrine Seyen, Federica De Majo, Servé Olieslagers, Dylan Mostert, Leon J. de Windt
{"title":"Generation and characterization of an isogenic gene-corrected iPSC line CARIMi009-A-1 from a Hutchinson-Gilford Progeria Syndrome (HGPS) patient with a heterozygous G608G mutation in the LMNA gene","authors":"Giuliana Lezzoche, Evangelia Ntotsia, Sandrine Seyen, Federica De Majo, Servé Olieslagers, Dylan Mostert, Leon J. de Windt","doi":"10.1016/j.scr.2026.104089","DOIUrl":"10.1016/j.scr.2026.104089","url":null,"abstract":"<div><div>Hutchinson-Gilford Progeria Syndrome (HGPS) is an ultra-rare systemic laminopathy caused by a heterozygous point mutation in the <em>LMNA</em> gene encoding Lamin A/C (c.1824C > T, p.G608G). This synonymous mutation causes the production of a toxic form of Lamin A called Progerin. Integration of Progerin within the nuclear lamina disrupts cellular processes such as chromatin organization and gene transcription. Here we generated and characterized the induced isogenic pluripotency stem cell control line generated by correcting the c.1824C > T mutation. Used together with its parental line, this isogenic line excludes differences in genetic background while studying the pathophysiology of HGPS.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"95 ","pages":"Article 104089"},"PeriodicalIF":0.6,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148888576","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}
Stem cell researchPub Date : 2026-09-01Epub Date: 2026-08-25DOI: 10.1016/j.scr.2026.104091
Reecha Suri, Kevin Emmerich, Sahana Manohar-Sindhu, Elyse MacCall, Rebecca L Harper, Robin Schwartzbeck, Rebecca Huffstutler, Elisa Ferrante, Xuming Tang, Dan Yang, Natalia I Dmitrieva, Yongshun Lin, Jizhong Zou, Carlos R Ferreira, Ivona Aksentijevich, Alexandra F Freeman, Alessandra Brofferio, Cornelia Cudrici, Manfred Boehm
{"title":"Establishment of human induced pluripotent stem cell lines and isogenic gene-corrected controls from three patients with prolidase deficiency","authors":"Reecha Suri, Kevin Emmerich, Sahana Manohar-Sindhu, Elyse MacCall, Rebecca L Harper, Robin Schwartzbeck, Rebecca Huffstutler, Elisa Ferrante, Xuming Tang, Dan Yang, Natalia I Dmitrieva, Yongshun Lin, Jizhong Zou, Carlos R Ferreira, Ivona Aksentijevich, Alexandra F Freeman, Alessandra Brofferio, Cornelia Cudrici, Manfred Boehm","doi":"10.1016/j.scr.2026.104091","DOIUrl":"10.1016/j.scr.2026.104091","url":null,"abstract":"<div><div>Prolidase deficiency is an autosomal recessive inborn error of metabolism caused by pathogenic variants in the <em>PEPD</em> gene. To date, close to 200 patients have been reported worldwide with a poorly understood pathomechanism. The <em>PEPD</em> gene encodes an enzyme that is involved in the final steps of collagen degradation. Urine amino acid analysis or specific dipeptide analysis can establish the biochemical diagnosis. In this study, we reprogrammed peripheral blood mononuclear cells (PBMCs) from three prolidase deficient patients into induced pluripotent stem cell (iPSC) lines and additionally generated isogenic controls using CRISPR-Cas9 genome editing. The pathogenic <em>PEPD</em> variants identified in our patients were <span><span>NP_000276.2:p.?</span><svg><path></path></svg></span> (NIHTVBi032-A), <span><span>NP_000276.2:p.(Ile415Asn)</span><svg><path></path></svg></span>/<span><span>NP_000276.2:p.(Trp326Ter)</span><svg><path></path></svg></span> (NIHTVBi033-A), and <span><span>NP_000276.2:p.(Arg265Ter)</span><svg><path></path></svg></span> (NIHTVBi034-A). These iPSC lines are valuable models to help investigate the pathomechanism of prolidase deficiency.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"95 ","pages":"Article 104091"},"PeriodicalIF":0.6,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148866846","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}
Stem cell researchPub Date : 2026-09-01Epub Date: 2026-08-28DOI: 10.1016/j.scr.2026.104093
V. Ramya, Lekshmi Krishna, Trichur R. Raju, Talakad N. Sathyaprabha, K. Vijayalakshmi
{"title":"Generation of human induced pluripotent stem cell line, NIMHi034-A, from peripheral blood mononuclear cells of a healthy Indian adult male","authors":"V. Ramya, Lekshmi Krishna, Trichur R. Raju, Talakad N. Sathyaprabha, K. Vijayalakshmi","doi":"10.1016/j.scr.2026.104093","DOIUrl":"10.1016/j.scr.2026.104093","url":null,"abstract":"<div><div>Induced pluripotent stem cell (iPSCs) line, NIMHi034-A has been generated from peripheral blood mononuclear cells (PBMCs) of a 59-year-old healthy Indian adult male using non-integrating Sendai viral reprogramming vectors in a feeder free method. The iPSCs exhibit normal karyotype, express markers of undifferentiated state and could differentiate <em>in-vitro</em> into cells of three germ layers. This cell line can serve as a healthy control for various disease models and in deciphering disease mechanisms.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"95 ","pages":"Article 104093"},"PeriodicalIF":0.6,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148875136","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}
Stem cell researchPub Date : 2026-04-01Epub Date: 2026-02-03DOI: 10.1016/j.scr.2026.103921
Meike Anders , Stefanie Hoppe , Hanna Eberl , Sabine Rebs , Aylin Seedorf , Wiebke Maurer , Tillmann Schill , Arne Zibat , Julia K. Unsöld , Gökhan Yigit , Bernd Wollnik , Dirk Vollmann , Samuel Sossalla , Katrin Streckfuss-Bömeke
{"title":"Generation of pluripotent stem cell line (IPWi001-A) and a corresponding CRISPR/Cas9 modified isogenic rescue control (IPWi001-A-1) from a patient with arrhythmia-induced cardiomyopathy harboring a KCNQ1 truncating mutation","authors":"Meike Anders , Stefanie Hoppe , Hanna Eberl , Sabine Rebs , Aylin Seedorf , Wiebke Maurer , Tillmann Schill , Arne Zibat , Julia K. Unsöld , Gökhan Yigit , Bernd Wollnik , Dirk Vollmann , Samuel Sossalla , Katrin Streckfuss-Bömeke","doi":"10.1016/j.scr.2026.103921","DOIUrl":"10.1016/j.scr.2026.103921","url":null,"abstract":"<div><div>KCNQ1 functions as a slow rectifying potassium channel during the repolarization of the cardiac action potential, with mutations causing long-QT syndrome 1 and arrhythmias. A genetic link between KCNQ1 mutations and arrhythmia-induced cardiomyopathy (AIC) has not been identified, and the underlying pathways remain elusive. We generated human induced pluripotent stem cells (hiPSCs) from an AIC patient harboring the heterozygous truncating mutation p.W15* in KCNQ1 and corrected the mutation to wildtype using CRISPR/Cas9. The hiPSCs retained full pluripotency, genomic integrity, and differentiation ability. They were differentiated into hiPSC-cardiomyocytes (hiPSC-CM), establishing a patient-specific model to explore potential genetic connections to AIC.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"92 ","pages":"Article 103921"},"PeriodicalIF":0.7,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146193162","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}
Stem cell researchPub Date : 2026-03-01Epub Date: 2026-01-13DOI: 10.1016/j.scr.2026.103911
Shuai Sun , Xiaochun Yang , Yang Zhou , Rebecca Yu , Parker Walther , Jeffrey Teuteberg , Victoria Parikh , Joseph C. Wu
{"title":"Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients carrying RBM20 mutations","authors":"Shuai Sun , Xiaochun Yang , Yang Zhou , Rebecca Yu , Parker Walther , Jeffrey Teuteberg , Victoria Parikh , Joseph C. Wu","doi":"10.1016/j.scr.2026.103911","DOIUrl":"10.1016/j.scr.2026.103911","url":null,"abstract":"<div><div>Dilated cardiomyopathy (DCM) is a myocardial disease, characterized by ventricular enlargement and reduced contractile ability, which frequently leads to heart failure and arrhythmias. This condition is related to loss-of-function mutations in the RNA-binding motif protein 20 (<em>RBM20</em>), which disrupts target gene splicing. Two induced pluripotent stem cell (iPSC) lines, each harboring a single heterozygous <em>RBM20</em> mutation, were generated from DCM patients. Both cell lines retain normal karyotypes and exhibit robust undifferentiated iPSC state markers. They have the capability to differentiate into derivatives of three germ layers, which provides a significant in vitro tool for <em>RBM20</em>-related DCM and a valuable platform for therapeutic development.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103911"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146030951","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}
Stem cell researchPub Date : 2026-03-01Epub Date: 2026-01-26DOI: 10.1016/j.scr.2026.103915
Franklyn D. Hall III , Christine Miller , Sharon Gerecht , Kenneth R. Boheler
{"title":"Generation of an induced pluripotent stem cell line, JHUi006-A, from a Marfan Syndrome patient harboring a pathogenic c.5225-2A > C intronic splicing variant","authors":"Franklyn D. Hall III , Christine Miller , Sharon Gerecht , Kenneth R. Boheler","doi":"10.1016/j.scr.2026.103915","DOIUrl":"10.1016/j.scr.2026.103915","url":null,"abstract":"<div><div>Marfan Syndrome, a heritable connective tissue disorder caused by mutations within the fibrillin-1 (<em>FBN1</em>) gene, can have deleterious effects on heart and aorta, eyes, the skeletal system and bone. <em>FBN1</em> mutations that result in increased aortic vulnerability to rupture are associated with high mortality rates. Here, we describe an induced pluripotent stem cell line (JHUi006-A) generated from patient-derived human dermal fibroblasts harboring a heterozygous c.5225-2A > C intronic splice acceptor site variant preceding Exon 43 of <em>FBN1</em> that results in exon skipping. The clonal line has a normal karyotype, expresses appropriate stemness markers, and maintains trilineage differentiation potential.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103915"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146114043","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}