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Generation of a new human iPSC cell line (UOMi010-A) from a patient with hypophosphatasia 从低磷酸症患者身上培育出新的人类iPSC细胞系（UOMi010-A）
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-07-11 DOI: 10.1016/j.scr.2025.103775
Abhay Srivastava , Dylan Walker , Jason Uzonna , Cheryl Rockman-Greenberg , Sanjiv Dhingra
{"title":"Generation of a new human iPSC cell line (UOMi010-A) from a patient with hypophosphatasia","authors":"Abhay Srivastava ,&nbsp;Dylan Walker ,&nbsp;Jason Uzonna ,&nbsp;Cheryl Rockman-Greenberg ,&nbsp;Sanjiv Dhingra","doi":"10.1016/j.scr.2025.103775","DOIUrl":"10.1016/j.scr.2025.103775","url":null,"abstract":"<div><div>Hypophosphatasia (HPP) is characterized by loss of function variants in the alkaline phosphatase (<em>ALPL</em>) gene that leads to impaired mineralization in bones and teeth. It is a rare inherited metabolic disorder which has prenatal, perinatal, juvenile, and adult-onset clinical presentations. In order to delineate molecular mechanisms underlying HPP and to screen new potential effective drug therapies, we have generated a patient specific iPSC cell line (UOMi010-A) from the patient’s peripheral blood mononuclear cells (PBMCs). The patient is 62 yr. old female with a heterozygous pathogenic variant in the <em>ALPL</em> gene at c.551G &gt; A (p.Arg184Gln).</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103775"},"PeriodicalIF":0.8,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144611683","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}
引用次数: 0
Generation of an induced pluripotent stem cell line from a Wilson’s disease patient carrying both c.2333G > T and c.2621C > T mutations 从携带c.2333G > T和c.2621C > T突变的威尔逊氏病患者身上产生的诱导多能干细胞系
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-07-11 DOI: 10.1016/j.scr.2025.103773
Danni Zhou , Jun Su , Jue Wang , Hao Wang , Lin Zhang , Fengquan Zhou , Lin Zhou , Shusen Zheng , Tingyu Gong , Ping Liang
{"title":"Generation of an induced pluripotent stem cell line from a Wilson’s disease patient carrying both c.2333G > T and c.2621C > T mutations","authors":"Danni Zhou ,&nbsp;Jun Su ,&nbsp;Jue Wang ,&nbsp;Hao Wang ,&nbsp;Lin Zhang ,&nbsp;Fengquan Zhou ,&nbsp;Lin Zhou ,&nbsp;Shusen Zheng ,&nbsp;Tingyu Gong ,&nbsp;Ping Liang","doi":"10.1016/j.scr.2025.103773","DOIUrl":"10.1016/j.scr.2025.103773","url":null,"abstract":"<div><div>Wilson’s disease (WD) is an autosomal recessive genetic disorder caused by the mutation of <em>ATP7B</em> gene encoding ATP7B protein (copper ion transporter ATPase β peptide). Functional impairments of ATP7B protein cause<!--> <!-->copper transport disorders in liver cells, eventually resulting in abnormal accumulation of copper<!--> <!-->and pathological manifestations. In this study, human renal epithelial cells obtained from a patient with WD were reprogrammed by a non-integrated Sendai virus to generate a patient-specific induced pluripotent stem cell (iPSC) line.<!--> <!-->The iPSC line expressed pluripotency markers, showed normal karyotype and morphology, and was capable to differentiate into three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103773"},"PeriodicalIF":0.8,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144611684","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}
引用次数: 0
Reprogramming of peripheral blood mononuclear cells from a patient with hypophosphatasia to generate iPSC line (UOMi011-A) 低磷血症患者外周血单个核细胞重编程生成iPSC细胞系（UOMi011-A）
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-07-11 DOI: 10.1016/j.scr.2025.103774
Abhay Srivastava , Niketa Sareen , Cheryl Rockman-Greenberg , Sanjiv Dhingra
{"title":"Reprogramming of peripheral blood mononuclear cells from a patient with hypophosphatasia to generate iPSC line (UOMi011-A)","authors":"Abhay Srivastava ,&nbsp;Niketa Sareen ,&nbsp;Cheryl Rockman-Greenberg ,&nbsp;Sanjiv Dhingra","doi":"10.1016/j.scr.2025.103774","DOIUrl":"10.1016/j.scr.2025.103774","url":null,"abstract":"<div><div>Hypophosphatasia (HPP) is a rare inherited metabolic disorder predominantly affecting bones and teeth. HPP can manifest throughout the life cycle from in utero, to perinatal and infantile (before 6 months of age) presentations, to onset in childhood through adulthood. We report a new cell line (UOMi011-A) generated from a 7 yr. old female with perinatal HPP. The patient exhibits homozygous c.1001G &gt; A (p.Gly334Asp) mutation in the <em>ALPL</em> gene. This cell line will be used for studying the molecular, cellular and developmental mechanisms in context to the mutation and disorder. It will also be used to screen potential therapeutic avenues.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103774"},"PeriodicalIF":0.8,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144611685","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}
引用次数: 0
Generation of induced pluripotent stem cell lines (RFSCi003-A, RFSCi004-A) from monozygotic twins discordant for age-related macular degeneration 年龄相关性黄斑变性的单卵双胞胎诱导多能干细胞系（RFSCi003-A, RFSCi004-A）的生成不一致
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-07-05 DOI: 10.1016/j.scr.2025.103768
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 ,&nbsp;Wendy Runyon ,&nbsp;Sam Hu ,&nbsp;Ajeet Singh ,&nbsp;Rinki Ratnapriya ,&nbsp;Ritu Kumar ,&nbsp;Karl Csaky ,&nbsp;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}
引用次数: 0
Generation of three human erythroblast-derived iPSC lines (UBTi002-A, UBTi002-B, and UBTi002-C) 三种人红母细胞衍生的iPSC系（UBTi002-A、UBTi002-B和UBTi002-C）的生成
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-07-05 DOI: 10.1016/j.scr.2025.103767
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,&nbsp;Hannah Sophie Klampfl,&nbsp;Peter Schlenke,&nbsp;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}
引用次数: 0
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 携带杂合ETV6 c.1105C > T变异的遗传性血小板疾病患者的人iPSC细胞系SANi012-A的产生和鉴定
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-07-05 DOI: 10.1016/j.scr.2025.103769
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 ,&nbsp;Chantal C. Clark ,&nbsp;Elise J. Huisman ,&nbsp;Marieke von Lindern ,&nbsp;Marjon H. Cnossen ,&nbsp;Emile van den Akker ,&nbsp;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 &gt; 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}
引用次数: 0
Generation of an induced pluripotent stem cell line from an unaffected female whose two sisters suffered spontaneous coronary artery dissections (SCAD) (VCCRIi024-A) 从一对姐妹遭受自发性冠状动脉剥离（SCAD）的未受影响女性身上获得诱导多能干细胞系（VCCRIi024-A）
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-07-05 DOI: 10.1016/j.scr.2025.103770
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 ,&nbsp;Keerat Junday ,&nbsp;Emily Hurley ,&nbsp;Stephanie Hesselson ,&nbsp;Lucy McGrath-Cadell ,&nbsp;Xenia Kaidonis ,&nbsp;Ingrid Tarr ,&nbsp;Eleni Giannoulatou ,&nbsp;Siiri E. Iismaa ,&nbsp;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}
引用次数: 0
Establishment of the NUMNi001-A human iPSC line from peripheral blood mononuclear cells of a healthy male donor 从健康男性供体外周血单个核细胞中建立NUMNi001-A人类多能干细胞系
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-07-03 DOI: 10.1016/j.scr.2025.103765
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
{"title":"Establishment of the NUMNi001-A human iPSC line from peripheral blood mononuclear cells of a healthy male donor","authors":"Akihito Tanaka ,&nbsp;Kazuhiro Furuhashi ,&nbsp;Jun Matsumoto ,&nbsp;Keita Hattori ,&nbsp;Akiko Owaki ,&nbsp;Tomohiro Kawazoe ,&nbsp;Akihisa Kato ,&nbsp;Chikao Onogi ,&nbsp;Yu Watanabe ,&nbsp;Eri Koshi-Ito ,&nbsp;Itaru Kushima ,&nbsp;Norio Ozaki ,&nbsp;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}
引用次数: 0
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 诱导多能干细胞（iPSC）系（XMUi001-A）的产生源于COQ4基因纯合突变c.370G > a （p.Gly124Ser）的患者
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-07-03 DOI: 10.1016/j.scr.2025.103764
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 ,&nbsp;Pianpian Pan ,&nbsp;Jinli Jian ,&nbsp;Wei Zhuang ,&nbsp;Zhehui Chen ,&nbsp;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 &gt; 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 &gt; 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}
引用次数: 0
Generation of an induced pluripotent stem cell line (SSMCi001-A) from a dilated cardiomyopathy patient due to mutations in the TTN gene 由TTN基因突变引起的扩张型心肌病患者诱导多能干细胞系（SSMCi001-A）的产生
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-06-30 DOI: 10.1016/j.scr.2025.103763
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 ,&nbsp;Yuanxi Wang ,&nbsp;Jian Hou ,&nbsp;Weixin Li ,&nbsp;Yongli Shan ,&nbsp;Ning Zhang ,&nbsp;Yanli Hu ,&nbsp;Cheng Wang ,&nbsp;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}
引用次数: 0
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