Huan Zhang , Chantal C. Clark , Elise J. Huisman , Marieke von Lindern , Marjon H. Cnossen , Emile van den Akker , Eszter Varga
{"title":"Generation and characterization of human iPSC line SANi011-A from a patient with an inherited platelet disorder carrying the heterozygous FLI1 c.297del variant","authors":"Huan Zhang , Chantal C. Clark , Elise J. Huisman , Marieke von Lindern , Marjon H. Cnossen , Emile van den Akker , Eszter Varga","doi":"10.1016/j.scr.2025.103771","DOIUrl":"10.1016/j.scr.2025.103771","url":null,"abstract":"<div><div>FLI1, a member of the ETS transcription factor family, is associated with Paris-Trousseau thrombocytopenia, and germline FLI1 mutations have been identified in patients with inherited platelet disorders. We generated the iPSC line SANI011-A from a patient carrying a de novo heterozygous nonsense mutation, <em>FLI1</em> c.297del. Proerythroblasts derived from the patient’s peripheral blood were reprogrammed into iPSCs using the non-integrative Sendai virus (SeV) delivery method. The resulting iPSC line exhibited normal karyotype, expressed pluripotent markers, and demonstrated the capacity for trilineage differentiation. The iPSC line provides a valuable model for studying hematopoiesis, particularly megakaryopoiesis and FLI1-related platelet disorders.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103771"},"PeriodicalIF":0.8,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144632761","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}
Naresh Rajendran , Wendy Runyon , Sam Hu , Ajeet Singh , Rinki Ratnapriya , Ritu Kumar , Karl Csaky , Srinivasa R. Sripathi
{"title":"Generation of induced pluripotent stem cell lines (RFSCi003-A, RFSCi004-A) from monozygotic twins discordant for age-related macular degeneration","authors":"Naresh Rajendran , Wendy Runyon , Sam Hu , Ajeet Singh , Rinki Ratnapriya , Ritu Kumar , Karl Csaky , Srinivasa R. Sripathi","doi":"10.1016/j.scr.2025.103768","DOIUrl":"10.1016/j.scr.2025.103768","url":null,"abstract":"<div><div>Age-related macular degeneration (AMD) has significant genetic component, yet monozygotic twins frequently exhibit discordance in disease status, highlighting the role of non-genetic factors. To enable comparative studies of AMD pathogenesis, we generated two induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of a monozygotic twin pair discordant for AMD. These iPSC lines offer a unique genetically matched resource to investigate molecular differences between affected and unaffected twins, as well as their responses to genetic, epigenetic, and environmental contributors to AMD development.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103768"},"PeriodicalIF":0.8,"publicationDate":"2025-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144570584","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}
Martina Auer, Hannah Sophie Klampfl, Peter Schlenke, Isabel Dorn
{"title":"Generation of three human erythroblast-derived iPSC lines (UBTi002-A, UBTi002-B, and UBTi002-C)","authors":"Martina Auer, Hannah Sophie Klampfl, Peter Schlenke, Isabel Dorn","doi":"10.1016/j.scr.2025.103767","DOIUrl":"10.1016/j.scr.2025.103767","url":null,"abstract":"<div><div>We reprogrammed human hematopoietic stem/progenitor cell (HSPC)-derived erythroblasts obtained from a healthy male donor. CD34+ HSPCs were differentiated ex-vivo into erythroid precursor cells and were then nucleofected with four episomal plasmids expressing SOX2, OCT3/4, KLF4, LIN28, L-MYC, and TP53-shRNA. The resulting iPSC lines displayed a normal karyotype. Pluripotency was confirmed through the expression of markers for undifferentiated human pluripotent stem cells (hPSC) and in vitro differentiation into tissues representing endoderm, mesoderm, and ectoderm. The iPSC lines UBTi002-A, UBTi002-B, and UBTi002-C are expected to serve as valuable tools for advancing research in human hematopoiesis and erythropoiesis.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103767"},"PeriodicalIF":0.8,"publicationDate":"2025-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144588978","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}
Huan Zhang , Chantal C. Clark , Elise J. Huisman , Marieke von Lindern , Marjon H. Cnossen , Emile van den Akker , Eszter Varga
{"title":"Generation and characterization of human iPSC line SANi012-A from a patient with an inherited platelet disorder carrying the heterozygous ETV6 c.1105C > T variant","authors":"Huan Zhang , Chantal C. Clark , Elise J. Huisman , Marieke von Lindern , Marjon H. Cnossen , Emile van den Akker , Eszter Varga","doi":"10.1016/j.scr.2025.103769","DOIUrl":"10.1016/j.scr.2025.103769","url":null,"abstract":"<div><div>Germline mutations in <em>ETV6</em>, a transcription factor of the ETS family, are associated with autosomal dominant thrombocytopenia and an increased risk of leukemia. We generated a human iPSC line, SANi012-A, from a patient carrying a heterozygous <em>ETV6</em> c.1105C > T missense mutation. Proerythroblasts from the patient’s peripheral blood mononuclear cells (PBMCs) were reprogrammed using a lentiviral hOKSM polycistronic vector. The iPSC line showed normal karyotype and morphology, expressed pluripotency markers, and were able to differentiate into all three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103769"},"PeriodicalIF":0.8,"publicationDate":"2025-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144571134","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}
Monique Bax , Keerat Junday , Emily Hurley , Stephanie Hesselson , Lucy McGrath-Cadell , Xenia Kaidonis , Ingrid Tarr , Eleni Giannoulatou , Siiri E. Iismaa , Robert M. Graham
{"title":"Generation of an induced pluripotent stem cell line from an unaffected female whose two sisters suffered spontaneous coronary artery dissections (SCAD) (VCCRIi024-A)","authors":"Monique Bax , Keerat Junday , Emily Hurley , Stephanie Hesselson , Lucy McGrath-Cadell , Xenia Kaidonis , Ingrid Tarr , Eleni Giannoulatou , Siiri E. Iismaa , Robert M. Graham","doi":"10.1016/j.scr.2025.103770","DOIUrl":"10.1016/j.scr.2025.103770","url":null,"abstract":"<div><div>Spontaneous Coronary Artery Dissection (SCAD) is a poorly understood predominantly female condition that can cause myocardial infarction, often affecting otherwise healthy women. Here, we generated an induced pluripotent stem cell line from a female with two SCAD-affected sisters. This individual has not had a SCAD to date; she is currently 12 years older than when SCAD first manifested in her sisters. This resource provides a valuable control for investigating mechanisms underlying SCAD susceptibility.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103770"},"PeriodicalIF":0.8,"publicationDate":"2025-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144571135","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}
Zhiyu Li , Sairah Yousaf , Bin Guan , Amelia Naik , Rafael Villasmil , Raymond S. Oh , Gene Liau , Temesgen D. Fufa , Laryssa A. Huryn , Robert B. Hufnagel
{"title":"Generation of four human pluripotent stem cell lines harboring OPA1-related optic atrophy variant","authors":"Zhiyu Li , Sairah Yousaf , Bin Guan , Amelia Naik , Rafael Villasmil , Raymond S. Oh , Gene Liau , Temesgen D. Fufa , Laryssa A. Huryn , Robert B. Hufnagel","doi":"10.1016/j.scr.2025.103766","DOIUrl":"10.1016/j.scr.2025.103766","url":null,"abstract":"<div><div>We have generated four human iPSC lines from skin biopsy-derived fibroblast cells with pathogenic variants in <em>OPA1</em>. Donors have a clinical diagnosis of optic atrophy. Three harbor heterozygous presumed loss-of-function (pLOF) variants, c.1608 + 1_1608 + 6delGTGAGG; c.2873_2876delTTAG; and c.635_636delAA; one patient is compound heterozygous for a nonsense allele c.676C>T p. (Gln226Ter) and a missense modifier allele c.1146A>G p.(Ile382Met). All iPSC lines were reprogrammed using non-integrating Sendai virus techniques and validated with undifferentiated hPSC state markers at RNA and protein level. <em>OPA1</em> iPSC lines differentiate into retinal ganglion-like cells, providing a useful platform to study pathogenesis and development of cell-based drug screens.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103766"},"PeriodicalIF":0.7,"publicationDate":"2025-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144721159","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":"Establishment of the NUMNi001-A human iPSC line from peripheral blood mononuclear cells of a healthy male donor","authors":"Akihito Tanaka , Kazuhiro Furuhashi , Jun Matsumoto , Keita Hattori , Akiko Owaki , Tomohiro Kawazoe , Akihisa Kato , Chikao Onogi , Yu Watanabe , Eri Koshi-Ito , Itaru Kushima , Norio Ozaki , Shoichi Maruyama","doi":"10.1016/j.scr.2025.103765","DOIUrl":"10.1016/j.scr.2025.103765","url":null,"abstract":"<div><div>Using an integration-free episomal vector containing the reprogramming components hOCT3/4, hSox2/KLF4, hL-MYC/LIN28, mp53DD, and EBNA-1, peripheral blood mononuclear cells obtained from a healthy 42-year-old man were successfully reprogrammed into induced pluripotent stem cells (iPSCs). The reprogrammed iPSCs were cultured without feeder cells. They exhibited a normal karyotype, expressed pluripotency markers, and differentiated into cells representing all three germ layers. The NUMNi001-A line could serve as a control for investigating disease mechanisms.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103765"},"PeriodicalIF":0.8,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144579725","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}
Minying Wang , Pianpian Pan , Jinli Jian , Wei Zhuang , Zhehui Chen , Mei Lu
{"title":"Generation of an induced pluripotent stem cell (iPSC) line (XMUi001-A) derived from a patient harboring homozygous mutations c.370G > A (p.Gly124Ser) in the COQ4 gene","authors":"Minying Wang , Pianpian Pan , Jinli Jian , Wei Zhuang , Zhehui Chen , Mei Lu","doi":"10.1016/j.scr.2025.103764","DOIUrl":"10.1016/j.scr.2025.103764","url":null,"abstract":"<div><div>Primary coenzyme Q10 deficiency type 7 (CoQ10D7) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous mutation in the COQ4 gene on chromosome 9q34. The c.370G > A mutation in the COQ4 gene has been identified as a founder mutation in the Southern China. We established an induced pluripotent stem cell (iPSC) line from a patient harboring the c.370G > A homozygous mutation. The cell line exhibited typical iPSC morphology, expressed high levels of stemness markers, and exhibited normal karyotype. The generation of these iPSCs provides a valuable CoQ10D7 model for studying the molecular and cellular consequences of CoQ10 deficiency.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103764"},"PeriodicalIF":0.8,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144588977","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}
Xia Li , Yuanxi Wang , Jian Hou , Weixin Li , Yongli Shan , Ning Zhang , Yanli Hu , Cheng Wang , Yan Long
{"title":"Generation of an induced pluripotent stem cell line (SSMCi001-A) from a dilated cardiomyopathy patient due to mutations in the TTN gene","authors":"Xia Li , Yuanxi Wang , Jian Hou , Weixin Li , Yongli Shan , Ning Zhang , Yanli Hu , Cheng Wang , Yan Long","doi":"10.1016/j.scr.2025.103763","DOIUrl":"10.1016/j.scr.2025.103763","url":null,"abstract":"<div><div>Dilated cardiomyopathy (DCM) represents a major contributor to heart failure and serves as the primary indication for heart transplantation worldwide. In this study, we generated a human induced pluripotent stem cell (hiPSC) line from a DCM patient harboring triple heterozygous mutations in the titin (TTN) gene, employing non-integrating episomal vectors for reprogramming. The established cell line maintained a normal male karyotype (46, XY), expressed characteristic pluripotency markers, and exhibited robust trilineage differentiation potential in vitro. This disease-specific iPSC model provides a valuable platform for investigating the molecular mechanisms underlying TTN mutation-associated DCM pathogenesis and for developing targeted therapeutic strategies.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103763"},"PeriodicalIF":0.8,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144549539","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}
Chantelle Thimm , Chutong Zhong , Wasco Wruck , Alessandra Grillo , Rosanne Mack , Martina Bohndorf , Nina Graffmann , Anson Tang , Viola D’Ambrosio , Elizabeth R Wan , Keith Siew , Rhys D Evans , Stephan B. Walsh , James Adjaye
{"title":"Generation of a Bartter syndrome type 3 patient-derived induced pluripotent stem cell line ISRM-BS3-UM18-iPSC (HHUUKDi014-A)","authors":"Chantelle Thimm , Chutong Zhong , Wasco Wruck , Alessandra Grillo , Rosanne Mack , Martina Bohndorf , Nina Graffmann , Anson Tang , Viola D’Ambrosio , Elizabeth R Wan , Keith Siew , Rhys D Evans , Stephan B. Walsh , James Adjaye","doi":"10.1016/j.scr.2025.103760","DOIUrl":"10.1016/j.scr.2025.103760","url":null,"abstract":"<div><div>SIX2-positive urine-derived renal progenitor cells (UdRPCs) were isolated from an 18-year-old Bartter syndrome type 3 (BS3) patient within a homozygous CLCNKB gene deletion. Two episomal-based plasmids expressing OCT4, SOX2, NANOG, KLF4, c-MYC and LIN28 we were able to generate an integration-free induced pluripotent stem cell line (iPSC). Pluripotency was confirmed by fluorescence-activated cell sorting analysis and immunocytochemistry for the markers-OCT4, SOX2, NANOG, TRA-1-60, TRA-1-81 and SSEA4. Embryoid body-based differentiation into the three germ layers was the conducted and confirmed by immunocytochemistry. Pluritest analysis revealed a Pearson correlation of 0,93. Short tandem repeat DNA fingerprinting and karyotype analyses were performed.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103760"},"PeriodicalIF":0.8,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144522908","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}