Bo Li , Haoran Mu , Didi Shan , Yitong Yang , Yingxin Wang , Jianing Li , Hongxu Wang , Xiaohan Sun , Xinbo Ji , Zexin Zhan , Yichang Jiao , Yao Tang , Bo Kong , Bo Gao , Yu Wang , Ping Sun , Fuchen Liu
{"title":"Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi009-A) from a patient with amyotrophic lateral sclerosis due to SOD1 mutation","authors":"Bo Li , Haoran Mu , Didi Shan , Yitong Yang , Yingxin Wang , Jianing Li , Hongxu Wang , Xiaohan Sun , Xinbo Ji , Zexin Zhan , Yichang Jiao , Yao Tang , Bo Kong , Bo Gao , Yu Wang , Ping Sun , Fuchen Liu","doi":"10.1016/j.scr.2025.103704","DOIUrl":"10.1016/j.scr.2025.103704","url":null,"abstract":"<div><div>Amyotrophic lateral sclerosis (ALS) is a fatal neurological disorder characterized by progressive degeneration of nerve cells in the spinal cord and brain. We generated and characterized a human induced pluripotent stem cell (iPSC) line from skin fibroblasts of a patient with ALS due to SOD1 Mutation. The pluripotency of these iPSCs was verified by the expression of several pluripotency markers at both RNA and protein levels, as well as their capability to differentiate into all three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103704"},"PeriodicalIF":0.8,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143747611","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}
Khine Zaw , Milan Fernando , Dan Zhang , Shang-Chih Chen , Livia S Carvalho , Anai Gonzalez Cordero , Tina M Lamey , Jennifer A Thompson , Terri L McLaren , Fred K Chen , Samuel McLenachan
{"title":"Generation of two induced pluripotent stem cell lines carrying the CDH23 c.1515-12G > A variant","authors":"Khine Zaw , Milan Fernando , Dan Zhang , Shang-Chih Chen , Livia S Carvalho , Anai Gonzalez Cordero , Tina M Lamey , Jennifer A Thompson , Terri L McLaren , Fred K Chen , Samuel McLenachan","doi":"10.1016/j.scr.2025.103706","DOIUrl":"10.1016/j.scr.2025.103706","url":null,"abstract":"<div><div>Autosomal recessive Usher syndrome (USH) is the most common inherited deaf-blindness disease, affecting one in 30,000 people worldwide.<!--> <!-->Here, we established two lines of induced pluripotent stem cells (iPSC) from a 48-year-old male carrier of a heterozygous NM_022124.6: c.1515-12G > A mutation in the <em>CDH23</em> gene associated with USH type 1D. The reprogrammed iPSC lines had a normal karyotype, expressed pluripotency markers and showed the ability to differentiate into the three major developmental layers during embryoid body differentiation.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103706"},"PeriodicalIF":0.8,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143769309","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}
{"title":"Generation of an integration-free induced pluripotent stem cell line, MURAi006-A, from a hemoglobin E/β-thalassemia patient harboring the βE/β0 (Codon 17, A > T) compound heterozygous mutation","authors":"Pawarit Innachai , Gunn Pornratananont , Chonthicha Satirapod , Usanarat Anurathapan , Duantida Songdej , Amornrat Tangprasittipap , Suradej Hongeng","doi":"10.1016/j.scr.2025.103702","DOIUrl":"10.1016/j.scr.2025.103702","url":null,"abstract":"<div><div>The <em>HBB</em> gene encodes the β-globin protein, one of the two main components of adult hemoglobin A (HbA) responsible for oxygen transport. β-thalassemia is a genetic disorder caused by mutations affecting β-globin chain synthesis, leading to reduced or absent β-globin production, impaired erythropoiesis, and generally results in anemia. In this study, the human-induced pluripotent stem cell line (hiPSC) MURAi006-A was generated from male fetal skin fibroblasts carrying both a β⁰-thalassemia mutation at codon 17 (A > T) and a codon 26 (G > A) HbE mutation using non-integrative reprogramming episomes.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103702"},"PeriodicalIF":0.8,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143760885","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}
{"title":"Generation of a homozygous ABCA7 knockout cell line (AHMUCNi002-A) in human iPSCs using CRISPR/Cas9","authors":"Juanjuan Li , Letian Yin , Chengwei Wang , Yin Xu","doi":"10.1016/j.scr.2025.103700","DOIUrl":"10.1016/j.scr.2025.103700","url":null,"abstract":"<div><div><em>ABCA7</em>, located on chromosome 19, encodes an ATP-binding cassette transporter. Loss-of-function variants of <em>ABCA7</em> are associated with an increased risk of Alzheimer’s disease. To explore the role of ABCA7 deficiency in the pathogenesis of Alzheimer’s disease, CRISPR/Cas9 genome-editing technology was utilized to generate a homozygous <em>ABCA7</em> knockout in human induced pluripotent stem cells (hiPSCs). The resulting <em>ABCA7</em> knockout cell line exhibited normal pluripotency, a stable karyotype, and the ability to differentiate into all three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103700"},"PeriodicalIF":0.8,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143725385","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}
Meghan Hanley , Shiqiao Ye , Jingting Zhu , Yang Yu , Hui Lin , Kevin Flanigan , Afrooz Rashnonejad , Ming-Tao Zhao
{"title":"Generation of an induced pluripotent stem cell line (NCHi023-A) from a 41-year-old male with nemaline myopathy carrying autosomal dominant ACTA1 c.809-10C>A mutation","authors":"Meghan Hanley , Shiqiao Ye , Jingting Zhu , Yang Yu , Hui Lin , Kevin Flanigan , Afrooz Rashnonejad , Ming-Tao Zhao","doi":"10.1016/j.scr.2025.103701","DOIUrl":"10.1016/j.scr.2025.103701","url":null,"abstract":"<div><div>Nemaline myopathy is a rare genetic condition characterized by weakened muscles due to thread-like rods, called nemaline bodies, in muscle fibers. This condition varies in time of onset and severity. Although there is no cure, therapies and treatments are available to reduce symptoms. This iPSC line, NCHi023-A, was reprogrammed using Sendai virus from skin fibroblasts from a male patient with nemaline myopathy carrying a pathogenic heterozygous <em>ACTA1</em> mutation. Characterization of this line was successful, with validation of cell identity, normal morphology and karyotype, positive expression of germ layer and pluripotency markers, and negative expression for mycoplasma and transgenes.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103701"},"PeriodicalIF":0.8,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704038","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}
Peter-James H. Zushin , Yang Zhou , Audrey Li , Euan A. Ashley , Matthew T. Wheeler , Joseph C. Wu
{"title":"Corrigendum to “Generation of two human iPSC lines with Exon 3 mutations in BLC2-Associated Athanogene 3 (BAG3) from dilated cardiomyopathy patients” [Stem Cell Res. 67 (2023) 103019]","authors":"Peter-James H. Zushin , Yang Zhou , Audrey Li , Euan A. Ashley , Matthew T. Wheeler , Joseph C. Wu","doi":"10.1016/j.scr.2025.103692","DOIUrl":"10.1016/j.scr.2025.103692","url":null,"abstract":"","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103692"},"PeriodicalIF":0.8,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143664362","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}
Floor W. van den Dolder , Vincent A.J. Warnaar , Yeszamin L. Onderwater , Annette F. Baas , Diederik W.D. Kuster , Jolanda van der Velden
{"title":"Generation of induced pluripotent stem cell lines from five individuals from two families carrying a pathogenic Dutch MYBPC3 founder variant with variable degrees of hypertrophic cardiomyopathy","authors":"Floor W. van den Dolder , Vincent A.J. Warnaar , Yeszamin L. Onderwater , Annette F. Baas , Diederik W.D. Kuster , Jolanda van der Velden","doi":"10.1016/j.scr.2025.103697","DOIUrl":"10.1016/j.scr.2025.103697","url":null,"abstract":"<div><div>Hypertrophic cardiomyopathy (HCM) is often caused by pathogenic or likely pathogenic variants, of which 30–50 % involve a variant in the gene encoding cardiac myosin-binding protein-C (<em>MYBPC3</em>). We generated human induced pluripotent stem cell lines from five individuals from two families carrying a pathogenic Dutch <em>MYBPC3</em> founder variant: c.2373insG (<em>n = 2</em>) and c.2827C > T (<em>n = 3</em>), with highly variable disease expression. Peripheral blood mononuclear cells were reprogrammed using episomal plasmids. All cell lines express pluripotent markers, exhibit a normal karyotype, and could differentiate into derivatives of each germ layers <em>in vitro</em>. These cell lines can serve as disease model to investigate HCM pathogenesis.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103697"},"PeriodicalIF":0.8,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143843009","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}
Haonan Zhou , Yaonan Liu , Qu Chen , Ke Huang , Pei-Gen Ren
{"title":"Generation of TP53 knock out induced pluripotent stem cell using CRISPR/Cas9","authors":"Haonan Zhou , Yaonan Liu , Qu Chen , Ke Huang , Pei-Gen Ren","doi":"10.1016/j.scr.2025.103699","DOIUrl":"10.1016/j.scr.2025.103699","url":null,"abstract":"<div><div>The TP53 gene is an important tumor suppressor gene. Through CRISPR/Cas9 technology, we have established a TP53 gene knockout cell line in iPSCs (SIIBRi001-A). This cell line maintains normal stem cell-like morphology, karyotype, expresses markers of pluripotency, and is capable of generating teratomas in immunodeficient mice. Quantitative analysis of pluripotency gene expression remains normal. This cell line can be utilized for studying the mechanisms underlying tumorigenesis.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103699"},"PeriodicalIF":0.8,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704242","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}
Claudia Sacchetto , Martina Rabino , Marianna Paulis , Sabina Ferron , Barbara Bauce , Libero Vitiello , Alessandra Rampazzo , Leon J. de Windt , Elisa Di Pasquale , Martina Calore
{"title":"Generation of the human iPSC line UNIPDi006-A from a patient with arrhythmogenic cardiomyopathy carrying the DSG2 c.1672C > T pathogenic variant","authors":"Claudia Sacchetto , Martina Rabino , Marianna Paulis , Sabina Ferron , Barbara Bauce , Libero Vitiello , Alessandra Rampazzo , Leon J. de Windt , Elisa Di Pasquale , Martina Calore","doi":"10.1016/j.scr.2025.103695","DOIUrl":"10.1016/j.scr.2025.103695","url":null,"abstract":"<div><div>Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by arrhythmias, risk of sudden cardiac death, and progressive fibro-fatty replacement in the myocardium. <em>DSG2</em>, encoding the desmosomal protein desmoglein-2, is one of the most frequently mutated genes in patients with ACM. We generated human induced pluripotent stem cells (hiPSCs) from epithelial renal cells of one ACM patient carrying the heterozygous nonsense DSG2 c.1672C > T mutation. The generated hiPSCs showed normal karyotype, expression of pluripotency markers, and trilineage differentiation potential. The reported line (UNIPDi006-A) might represent a useful tool for <em>in vitro</em> modeling of ACM.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103695"},"PeriodicalIF":0.8,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143642786","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}
Giuseppina Conteduca , Chiara Baldo , Alessia Arado , Joana Soraia Martinheira da Silva , Renata Bocciardi , Barbara Testa , Simona Baldassari , Maria Margherita Mancardi , Federico Zara , Michela Malacarne , Domenico Coviello
{"title":"Derivation of the IGGi006-A stem cell line from a patient with CAPRIN1 haploinsufficiency","authors":"Giuseppina Conteduca , Chiara Baldo , Alessia Arado , Joana Soraia Martinheira da Silva , Renata Bocciardi , Barbara Testa , Simona Baldassari , Maria Margherita Mancardi , Federico Zara , Michela Malacarne , Domenico Coviello","doi":"10.1016/j.scr.2025.103696","DOIUrl":"10.1016/j.scr.2025.103696","url":null,"abstract":"<div><div><em>CAPRIN1</em> gene encodes a RNA-binding protein, abundant in the brain where it plays a crucial role, regulating the transport and translation of mRNAs of synaptic proteins.<!--> <em>CAPRIN1</em> haploinsufficiency causes a neurodevelopmental disorder characterized by language impairment/speech delay, intellectual disability, attention deficit, hyperactivity disorder, and autism spectrum disorder. To understand the pathogenesis of this disorder and in view of future treatment, we generated human induced pluripotent stem cells (iPSCs) from a patient carrying the c.1744C>T <em>CAPRIN1</em> variant. The line show marker expression for the pluripotency and the capacity to differentiate into the three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103696"},"PeriodicalIF":0.8,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670691","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}