Christos Triantafyllou , Michael Peitz , Bernd K. Fleischmann , Sarah Rieck
{"title":"Generation of a homozygous DNMT3A knock-out hiPSC line for modeling of cardiovascular diseases associated with clonal hematopoiesis of indeterminate potential","authors":"Christos Triantafyllou , Michael Peitz , Bernd K. Fleischmann , Sarah Rieck","doi":"10.1016/j.scr.2025.103707","DOIUrl":"10.1016/j.scr.2025.103707","url":null,"abstract":"<div><div>Mutations associated with clonal hematopoiesis of indeterminate potential (CHIP) have been linked to cardiovascular disease (CVD), with DNA methyltransferase 3A (<em>DNMT3A</em>) being the most commonly mutated gene. (<span><span>Jaiswal et al., 2017</span></span>, <span><span>Abplanalp et al., 2021</span></span>) We generated a genome-edited human induced pluripotent stem cell (hiPSC) line with a homozygous knock-out (KO) of <em>DNMT3A</em>, to mimic loss-of-function mutations, and an isogenic mock-treated control line (mock ctrl). For quality control, we tested the pluripotency of these hiPSC lines and their ability to differentiate into the three germ layers. The generation of these cell lines enables the analysis of cellular pathomechanisms of <em>DNMT3A</em>-related, CHIP-associated CVDs.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103707"},"PeriodicalIF":0.8,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143886027","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}
Denise Sperlich , Katharina Becker , Ulrike Mau-Holzmann , Stefan Liebau , Kevin Achberger
{"title":"Generation and characterization of the iPSC line INDBi001-A from human keratinocytes of a healthy male using Sendai virus reprogramming","authors":"Denise Sperlich , Katharina Becker , Ulrike Mau-Holzmann , Stefan Liebau , Kevin Achberger","doi":"10.1016/j.scr.2025.103709","DOIUrl":"10.1016/j.scr.2025.103709","url":null,"abstract":"<div><div>We generated a fully characterized iPSC line derived from human keratinocytes using Sendai virus-based reprogramming. This integration-free method preserves genomic integrity, enabling the generation of a pluripotent line with robust self-renewal and differentiation capabilities. Comprehensive characterization confirmed the iPSC line’s pluripotency markers, trilineage differentiation potential, and karyotypic normality. This resource provides a valuable tool for disease modeling, drug discovery, and regenerative medicine applications.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103709"},"PeriodicalIF":0.8,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143817585","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}
Dan Zhang , Di Huang , Shang-Chih Chen , Danial Roshandel , Tina M Lamey , Jennifer A Thompson , Terri L McLaren , Fred K Chen , Samuel McLenachan
{"title":"Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variant","authors":"Dan Zhang , Di Huang , Shang-Chih Chen , Danial Roshandel , Tina M Lamey , Jennifer A Thompson , Terri L McLaren , Fred K Chen , Samuel McLenachan","doi":"10.1016/j.scr.2025.103705","DOIUrl":"10.1016/j.scr.2025.103705","url":null,"abstract":"<div><div>The human induced pluripotent stem cell line LEIi023-A was generated from a 51-year-old female patient with retinitis pigmentosa 11 (RP11) caused by a single nucleotide deletion in the <em>PRPF31</em> gene, (NM 015629.3: c.267del, p.(Glu89Aspfs*11)). Reprogramming the patient dermal fibroblasts was performed using episomal plasmids expressing reprogramming factors: <em>OCT4</em>, <em>SOX2</em>, <em>KLF4</em>, <em>LMYC</em>, <em>LIN28</em>, p53 shRNA and miR-302/367. LEIi023-A displayed expression of pluripotent stem cell markers, a normal karyotype and capability for differentiation of the three germ layers and retinal pigment epithelial cells.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103705"},"PeriodicalIF":0.8,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143814872","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 and validation of a Leber Congenital Amaurosis, Type 12 patient-specific iPSC line (LVPEIi006-B) with a splice-site mutation in RD3 and an isogenic mutation-corrected iPSC line (LVPEIi006-B-1)","authors":"Sudipta Mahato , Savitri Maddileti , Trupti Agrawal , Sundaram Acharya , Chitra Kannabiran , Subhadra Jalali , Debojyoti Chakraborty , Indumathi Mariappan","doi":"10.1016/j.scr.2025.103703","DOIUrl":"10.1016/j.scr.2025.103703","url":null,"abstract":"<div><div>Leber congenital amaurosis, Type 12 is an early onset, autosomal recessive retinal disease caused by mutations in <em>RD3</em>. We report the generation of a patient-specific iPSC line (LVPEIi006-B), using Sendai viral vector-based reprogramming approach and an isogenic, mutation-corrected iPSC line (LVPEIi006-B-1), using an en31FnCas9-based adenine base editor (ABE) system. Both lines were clonally expanded and genotyped to confirm the presence of patient-specific mutation and desired base correction in the edited line. Both lines maintained their stemness, pluripotency, genomic integrity and could differentiate into retinal organoids. The mutation-corrected, heterozygous iPSC-derived retinal organoids displayed a partial restoration of normal <em>RD3</em> mRNA splicing.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103703"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143776252","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}
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}