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Generation of a gene-corrected human isogenic iPSC line from a patient with Fabry disease carrying the GLA variant c.1069C>T using CRISPR/Cas9-mediated homology directed repair
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-04-10 DOI: 10.1016/j.scr.2025.103711
Franziska Karl-Schöller , Maximilian Breyer , Eva Klopocki , Nurcan Üçeyler
{"title":"Generation of a gene-corrected human isogenic iPSC line from a patient with Fabry disease carrying the GLA variant c.1069C>T using CRISPR/Cas9-mediated homology directed repair","authors":"Franziska Karl-Schöller ,&nbsp;Maximilian Breyer ,&nbsp;Eva Klopocki ,&nbsp;Nurcan Üçeyler","doi":"10.1016/j.scr.2025.103711","DOIUrl":"10.1016/j.scr.2025.103711","url":null,"abstract":"<div><div>Fabry disease (FD) is an X-linked genetic disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency and intracellular globotriaosylceramide (Gb3) accumulation. To study FD-associated pathomechanisms, we generated an isogenic control induced pluripotent stem cell (iPSC) line (IsoFD-1) from a patient-derived FD-iPSC line (FD-1) carrying the GLA c.1069C&gt;T mutation. Using CRISPR/Cas9 gene correction, we restored the wild-type sequence, confirmed by Sanger sequencing and absence of Gb3 deposits. IsoFD-1 exhibited typical pluripotency markers, normal karyotype, and trilineage differentiation capacity. This line provides a valuable tool for investigating Gb3-related cellular dysfunction in FD.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103711"},"PeriodicalIF":0.8,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143823989","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 stable Cas9-EGFP expressing human induced pluripotent stem cell lines based on SeLection by Essential-gene Exon Knock-in technology
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-04-07 DOI: 10.1016/j.scr.2025.103710
Yao Zhang , Zijun Lu , Hao Yang , Lokyu Cheng , Elena Zaklyazminskaya , Olga Sokolova , Hongmei Tan , Joe Z Zhang
{"title":"Generation of stable Cas9-EGFP expressing human induced pluripotent stem cell lines based on SeLection by Essential-gene Exon Knock-in technology","authors":"Yao Zhang ,&nbsp;Zijun Lu ,&nbsp;Hao Yang ,&nbsp;Lokyu Cheng ,&nbsp;Elena Zaklyazminskaya ,&nbsp;Olga Sokolova ,&nbsp;Hongmei Tan ,&nbsp;Joe Z Zhang","doi":"10.1016/j.scr.2025.103710","DOIUrl":"10.1016/j.scr.2025.103710","url":null,"abstract":"<div><div>Here, we used SeLection by Essential-gene Exon Knock-in technology to generate the iPSC line with constitutive expression of Cas9-EGFP, while retaining all functions of the essential gene. Cas9-EGFP was inserted into the GAPDH exon9 via the homologous recombination, avoiding Cas9 silencing that often occurs during iPSC differentiation. The edited cell line shows precise knock-in locus with the typical characteristics and pluripotency of iPSCs. Therefore, this iPSC line is valuable for CRISPR screening or related experiments and could be widely used in the CRISPR/Cas9-based gene editing.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103710"},"PeriodicalIF":0.8,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143817586","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 a genome-edited EMILIN1 (c.1606C>T) hiPSC line to investigate aortic aneurysm formation in vitro
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-04-05 DOI: 10.1016/j.scr.2025.103708
Yanhui Zhang , Michael Peitz , Bernd K. Fleischmann , Sarah Rieck
{"title":"Generation of a genome-edited EMILIN1 (c.1606C>T) hiPSC line to investigate aortic aneurysm formation in vitro","authors":"Yanhui Zhang ,&nbsp;Michael Peitz ,&nbsp;Bernd K. Fleischmann ,&nbsp;Sarah Rieck","doi":"10.1016/j.scr.2025.103708","DOIUrl":"10.1016/j.scr.2025.103708","url":null,"abstract":"<div><div>Patients with <em>EMILIN1</em> mutations experience a variety of symptoms, such as the formation of aortic aneurysm (AA) and aortic tortuosity. They suffer from early disease onset and severe disease progression with a higher prevalence in males (<span><span>Adamo et al. 2022</span></span>). We generated a homozygous genome-edited human induced pluripotent stem cell (hiPSC) line carrying the <em>EMILIN1</em> c.1606C&gt;T (p.Gln536*) mutation (EMILIN1 C1606T), along with an isogenic control line (mock ctrl.). We assessed the pluripotency of these hiPSC lines and their ability to differentiate into the three germ layers. These cell lines provide a platform for investigating the cellular pathomechanisms associated with <em>EMILIN1</em> c.1606C&gt;T-related cardiovascular diseases.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103708"},"PeriodicalIF":0.8,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143823988","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 the iPSC line INDBi001-A from human keratinocytes of a healthy male using Sendai virus reprogramming
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-04-04 DOI: 10.1016/j.scr.2025.103709
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 ,&nbsp;Katharina Becker ,&nbsp;Ulrike Mau-Holzmann ,&nbsp;Stefan Liebau ,&nbsp;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}
引用次数: 0
Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variant
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-04-02 DOI: 10.1016/j.scr.2025.103705
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 ,&nbsp;Di Huang ,&nbsp;Shang-Chih Chen ,&nbsp;Danial Roshandel ,&nbsp;Tina M Lamey ,&nbsp;Jennifer A Thompson ,&nbsp;Terri L McLaren ,&nbsp;Fred K Chen ,&nbsp;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}
引用次数: 0
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)
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-04-01 DOI: 10.1016/j.scr.2025.103703
Sudipta Mahato , Savitri Maddileti , Trupti Agrawal , Sundaram Acharya , Chitra Kannabiran , Subhadra Jalali , Debojyoti Chakraborty , Indumathi Mariappan
{"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 ,&nbsp;Savitri Maddileti ,&nbsp;Trupti Agrawal ,&nbsp;Sundaram Acharya ,&nbsp;Chitra Kannabiran ,&nbsp;Subhadra Jalali ,&nbsp;Debojyoti Chakraborty ,&nbsp;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}
引用次数: 0
Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi009-A) from a patient with amyotrophic lateral sclerosis due to SOD1 mutation
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-03-31 DOI: 10.1016/j.scr.2025.103704
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 ,&nbsp;Haoran Mu ,&nbsp;Didi Shan ,&nbsp;Yitong Yang ,&nbsp;Yingxin Wang ,&nbsp;Jianing Li ,&nbsp;Hongxu Wang ,&nbsp;Xiaohan Sun ,&nbsp;Xinbo Ji ,&nbsp;Zexin Zhan ,&nbsp;Yichang Jiao ,&nbsp;Yao Tang ,&nbsp;Bo Kong ,&nbsp;Bo Gao ,&nbsp;Yu Wang ,&nbsp;Ping Sun ,&nbsp;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}
引用次数: 0
Generation of two induced pluripotent stem cell lines carrying the CDH23 c.1515-12G > A variant
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-03-31 DOI: 10.1016/j.scr.2025.103706
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 ,&nbsp;Milan Fernando ,&nbsp;Dan Zhang ,&nbsp;Shang-Chih Chen ,&nbsp;Livia S Carvalho ,&nbsp;Anai Gonzalez Cordero ,&nbsp;Tina M Lamey ,&nbsp;Jennifer A Thompson ,&nbsp;Terri L McLaren ,&nbsp;Fred K Chen ,&nbsp;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 &gt; 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}
引用次数: 0
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
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-03-26 DOI: 10.1016/j.scr.2025.103702
Pawarit Innachai , Gunn Pornratananont , Chonthicha Satirapod , Usanarat Anurathapan , Duantida Songdej , Amornrat Tangprasittipap , Suradej Hongeng
{"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 ,&nbsp;Gunn Pornratananont ,&nbsp;Chonthicha Satirapod ,&nbsp;Usanarat Anurathapan ,&nbsp;Duantida Songdej ,&nbsp;Amornrat Tangprasittipap ,&nbsp;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 &gt; T) and a codon 26 (G &gt; 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}
引用次数: 0
Generation of a homozygous ABCA7 knockout cell line (AHMUCNi002-A) in human iPSCs using CRISPR/Cas9
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-03-25 DOI: 10.1016/j.scr.2025.103700
Juanjuan Li , Letian Yin , Chengwei Wang , Yin Xu
{"title":"Generation of a homozygous ABCA7 knockout cell line (AHMUCNi002-A) in human iPSCs using CRISPR/Cas9","authors":"Juanjuan Li ,&nbsp;Letian Yin ,&nbsp;Chengwei Wang ,&nbsp;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}
引用次数: 0
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