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Generation of human induced pluripotent stem cell (hiPSC) lines from patients with extreme high and low polygenic scores for QT interval
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-27 DOI: 10.1016/j.scr.2025.103691
Devyn Mitchell , Rizwan Ullah , Loren Vanags , Alex Shen , Luke Jones , William Morris , Matthew J. O’Neill , Giovanni Davogustto , Christian Shaffer , Dan Roden , Ben Shoemaker , Hollie Williams , Teresa Strickland , Taylor Agee , Christopher Johnson , Brett Kroncke
{"title":"Generation of human induced pluripotent stem cell (hiPSC) lines from patients with extreme high and low polygenic scores for QT interval","authors":"Devyn Mitchell ,&nbsp;Rizwan Ullah ,&nbsp;Loren Vanags ,&nbsp;Alex Shen ,&nbsp;Luke Jones ,&nbsp;William Morris ,&nbsp;Matthew J. O’Neill ,&nbsp;Giovanni Davogustto ,&nbsp;Christian Shaffer ,&nbsp;Dan Roden ,&nbsp;Ben Shoemaker ,&nbsp;Hollie Williams ,&nbsp;Teresa Strickland ,&nbsp;Taylor Agee ,&nbsp;Christopher Johnson ,&nbsp;Brett Kroncke","doi":"10.1016/j.scr.2025.103691","DOIUrl":"10.1016/j.scr.2025.103691","url":null,"abstract":"<div><div>Long QT syndrome (LQTS), an inherited cardiac arrhythmia syndrome with congenital and drug-induced presentations and known monogenic and polygenic contributions, represents a significant clinical challenge due to its complex genetic underpinning and propensity for fatal arrhythmias. In this study, we generated induced pluripotent stem cells (iPSCs) reprogrammed from peripheral blood mononuclear cells (PBMCs) of six patients with extreme polygenic scores for short and long corrected QT intervals. This patient-specific approach will enable us to better understand variable expressivity and penetrance of LQTS, using rigorously validated iPSC lines serve as a vital resource for elucidating the molecular mechanisms underlying LQTS.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103691"},"PeriodicalIF":0.8,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143534341","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
Human induced pluripotent stem cell line (PNUSCRi006-A) derived from a patient with Sanfilippo syndrome type A exhibiting a mutation in SGSH gene
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-25 DOI: 10.1016/j.scr.2025.103690
Nayeon Lee , Haneul Noh , Chong Kun Cheon
{"title":"Human induced pluripotent stem cell line (PNUSCRi006-A) derived from a patient with Sanfilippo syndrome type A exhibiting a mutation in SGSH gene","authors":"Nayeon Lee ,&nbsp;Haneul Noh ,&nbsp;Chong Kun Cheon","doi":"10.1016/j.scr.2025.103690","DOIUrl":"10.1016/j.scr.2025.103690","url":null,"abstract":"<div><div>Mucopolysaccharidosis Type IIIA (MPS IIIA), known as Sanfilippo syndrome type A, is a rare autosomal recessive lysosomal storage disorder caused by the mutations in the N-sulfoglucosamine Sulfohydrolase (SGSH) gene, encoding the enzyme heparan N-sulfatase (HNS). We obtained peripheral blood mononuclear cells (PBMCs) from a patient diagnosed with Sanfilippo syndrome carrying the mutation c.[706G&gt;A(p.Asp235Asn)];c.[449G&gt;A (p.Arg150Gln)] in the SGSH gene. We successfully generated an induced pluripotent stem cell (iPSC) line from isolated patient PBMCs using a non-integrative Sendai virus method. The hiPSCs displayed characteristics of embryonic stem cells, showed the ability to differentiate into three germ layers, and presented a normal karyotype.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103690"},"PeriodicalIF":0.8,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143510287","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 human iPSC line with heterozygous PRPF8 c.5792C > T, p. T1931M mutation to model retinitis pigmentosa using CRISPR/Cas9 technology
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-24 DOI: 10.1016/j.scr.2025.103689
Hang Chen , Yuqin Liang , Yuexi Chen , Yuan Liang , Xiaoxue Li , Chunwen Duan , Zekai Cui , Jianing Gu , Chengcheng Ding , Xihao Sun , Jiansu Chen
{"title":"Generation of a human iPSC line with heterozygous PRPF8 c.5792C > T, p. T1931M mutation to model retinitis pigmentosa using CRISPR/Cas9 technology","authors":"Hang Chen ,&nbsp;Yuqin Liang ,&nbsp;Yuexi Chen ,&nbsp;Yuan Liang ,&nbsp;Xiaoxue Li ,&nbsp;Chunwen Duan ,&nbsp;Zekai Cui ,&nbsp;Jianing Gu ,&nbsp;Chengcheng Ding ,&nbsp;Xihao Sun ,&nbsp;Jiansu Chen","doi":"10.1016/j.scr.2025.103689","DOIUrl":"10.1016/j.scr.2025.103689","url":null,"abstract":"<div><div>Mutations in the PRPF8 gene frequently result in retinitis pigmentosa (RP), an autosomal dominant inherited retinal disease that can lead to nyctalopia and progressive vision loss. Currently, no effective treatment is available. In this study, we used CRISPR/Cas9 technology to introduce a heterozygous point mutation in<!--> <!-->the PRPF8 gene of a normal induced pluripotent stem cell (iPSC) line. This mutation mirrors that found in a previously reported<!--> <!-->RP patient-derived iPSC line (CSUASOi006-A) from our group. Establishing the PRPF8 gene mutation cell line (CSUASOi012-A-2) provides a valuable cellular resource for studying the pathogenesis of RP.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103689"},"PeriodicalIF":0.8,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143510288","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 line (NCKDi006-A) from a 34-year-old patient with focal segmental glomerulosclerosis carrying a heterozygous mutation in the TRPC6 gene
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-20 DOI: 10.1016/j.scr.2025.103687
Yiqing Wang , Minghao Yu , Zhihong Liu , Gang Wang
{"title":"Generation of an induced pluripotent stem cell line (NCKDi006-A) from a 34-year-old patient with focal segmental glomerulosclerosis carrying a heterozygous mutation in the TRPC6 gene","authors":"Yiqing Wang ,&nbsp;Minghao Yu ,&nbsp;Zhihong Liu ,&nbsp;Gang Wang","doi":"10.1016/j.scr.2025.103687","DOIUrl":"10.1016/j.scr.2025.103687","url":null,"abstract":"<div><div>Focal segmental glomerulosclerosis (FSGS) is a common pathological nephrotic syndrome. The ion channel protein TRPC6 is associated mainly with the late-onset form of autosomal dominant familial FSGS. We identified a heterozygous mutation in the TRPC6 gene in an FSGS patient with a family history of end-stage renal disease (ESRD). Peripheral blood mononuclear cells (PBMCs) were obtained from the patient, and induced pluripotent stem cell (iPSC) lines were successfully generated. The establishment of these iPSC lines will provide a basis for further research into the pathogenesis of this condition.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103687"},"PeriodicalIF":0.8,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143474093","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 (INNDSUi008-A) from a patient with Spinocerebellar Ataxia Type 3
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-17 DOI: 10.1016/j.scr.2025.103675
Bo Li , Yingxin Wang , Yitong Yang , Didi Shan , Jianing Li , Hongxu Wang , Xiaohan Sun , Zexin Zhan , Xinbo Ji , Yao Tang , Yichang Jiao , Bo Kong , Bo Gao , Ping Sun , Fuchen Liu , Yu Wang
{"title":"Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi008-A) from a patient with Spinocerebellar Ataxia Type 3","authors":"Bo Li ,&nbsp;Yingxin Wang ,&nbsp;Yitong Yang ,&nbsp;Didi Shan ,&nbsp;Jianing Li ,&nbsp;Hongxu Wang ,&nbsp;Xiaohan Sun ,&nbsp;Zexin Zhan ,&nbsp;Xinbo Ji ,&nbsp;Yao Tang ,&nbsp;Yichang Jiao ,&nbsp;Bo Kong ,&nbsp;Bo Gao ,&nbsp;Ping Sun ,&nbsp;Fuchen Liu ,&nbsp;Yu Wang","doi":"10.1016/j.scr.2025.103675","DOIUrl":"10.1016/j.scr.2025.103675","url":null,"abstract":"<div><div>Abnormal trinucleotide CAG repeat expansions in exon 10 of the ataxin-3 (ATXN3) gene has been identified as the cause of Spinocerebellar Ataxia Type 3 (SCA3). We generated and characterized a human induced pluripotent stem cell (iPSC) line from skin fibroblasts of a patient with genetically confirmed SCA3. The pluripotency of these iPSCs was verified by the expression of several undifferentiated hPSCs 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":"84 ","pages":"Article 103675"},"PeriodicalIF":0.8,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143464894","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
Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-16 DOI: 10.1016/j.scr.2025.103688
Hiroki Ura , Sumihito Togi , Hisayo Hatanaka , Yo Niida
{"title":"Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome","authors":"Hiroki Ura ,&nbsp;Sumihito Togi ,&nbsp;Hisayo Hatanaka ,&nbsp;Yo Niida","doi":"10.1016/j.scr.2025.103688","DOIUrl":"10.1016/j.scr.2025.103688","url":null,"abstract":"<div><div>X-linked Ohdo syndrome is a heterogenous group of disorders characterized by intellectual disability and typical facial features including blepharophimosis. The X-linked Ohdo syndrome is caused by a loss-of-function mutation in the <em>MED12</em> gene on the X chromosome. The peripheral blood mononuclear cells from a patient carrying missense mutation in the <em>MED12</em> gene were reprogrammed using the CytoTune-iPS2.0 Sendai Reprogramming Kit. The <em>KMUGMCi009-A</em> cell line was derived from a brother of the <em>KMUGMCi010</em> patient carrying the same mutation. The missense mutation causes the abnormal protein variant. The established human induced pluripotent cell line will allow proper <em>in vitro</em> disease modelling of X-linked Ohdo syndrome.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103688"},"PeriodicalIF":0.8,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143464895","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 ARX-T2A-H2B-CFP x C-PEP-mCherry-hiPSC double reporter line for monitoring of pancreatic differentiation
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-15 DOI: 10.1016/j.scr.2025.103685
Eunike Sawitning Ayu Setyono , Nicole Katarina Rogers , Anita Hofmann , Heiko Lickert , Ingo Burtscher
{"title":"Generation of ARX-T2A-H2B-CFP x C-PEP-mCherry-hiPSC double reporter line for monitoring of pancreatic differentiation","authors":"Eunike Sawitning Ayu Setyono ,&nbsp;Nicole Katarina Rogers ,&nbsp;Anita Hofmann ,&nbsp;Heiko Lickert ,&nbsp;Ingo Burtscher","doi":"10.1016/j.scr.2025.103685","DOIUrl":"10.1016/j.scr.2025.103685","url":null,"abstract":"<div><div>Pancreatic islets consist of several different endocrine cell types that work in harmony. Aside from primary pancreatic islets, stem cell-derived pancreatic islets can be used as an alternative research and disease model. Here, we introduce a double reporter line of ARX-T2A-H2B-CFP x C-PEP-mCherry-hiPSC through CRISPR/Cas9-mediated insertion of mCherry in the C-terminus of C-Peptide in the previously published ARX-CFP hiPSC line. This reporter line allows live monitoring of stem cell-derived pancreatic alpha and beta cells throughout differentiation.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103685"},"PeriodicalIF":0.8,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143519537","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 and characterization of a pluripotent stem cell line CIPi005-A derived from a female patient carrying non-canonical splice site c.827 + 1G > A in WDR45
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-15 DOI: 10.1016/j.scr.2025.103686
Jie Fang , Yanyan Gao , Yunzhe Kang , Yin Li , Qian Chen , Jiayu Chen , Peipei Zhang
{"title":"Generation and characterization of a pluripotent stem cell line CIPi005-A derived from a female patient carrying non-canonical splice site c.827 + 1G > A in WDR45","authors":"Jie Fang ,&nbsp;Yanyan Gao ,&nbsp;Yunzhe Kang ,&nbsp;Yin Li ,&nbsp;Qian Chen ,&nbsp;Jiayu Chen ,&nbsp;Peipei Zhang","doi":"10.1016/j.scr.2025.103686","DOIUrl":"10.1016/j.scr.2025.103686","url":null,"abstract":"<div><div>β-propeller protein-associated neurodegeneration (BPAN) is a rare neurodegenerative disease with developmental retardation, epilepsy and extrapyramidal symptoms, associated with mutations in <em>WDR45</em>. In this article, we generated an iPSC line from peripheral blood mononuclear cells (PBMCs) of a 3-year-old girl who carries a splice site mutation c.827 + 1G &gt; A in <em>WDR45</em>. The generated iPSC exhibited high expression of pluripotency genes, a normal karyotype, good ability of embryoid bodies differentiation.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103686"},"PeriodicalIF":0.8,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143429794","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 CPAMD8 knockout human embryonic stem cell line (WAe009-A-2R) by CRISPR/Cas9 system
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-15 DOI: 10.1016/j.scr.2025.103683
Wenmin Pan , Yuhe Yang , Shun Zhang , Xiaoyu Liu , Huijuan Hu , Jia Qu , Hui Liu
{"title":"Generation of a homozygous CPAMD8 knockout human embryonic stem cell line (WAe009-A-2R) by CRISPR/Cas9 system","authors":"Wenmin Pan ,&nbsp;Yuhe Yang ,&nbsp;Shun Zhang ,&nbsp;Xiaoyu Liu ,&nbsp;Huijuan Hu ,&nbsp;Jia Qu ,&nbsp;Hui Liu","doi":"10.1016/j.scr.2025.103683","DOIUrl":"10.1016/j.scr.2025.103683","url":null,"abstract":"<div><div><em>CPAMD8</em>, a constituent of the A2M/C3 (α-2-macroglobulin/complement 3) protein family, is strikingly expressed in the human fetal lens and distal neural retina. Mutations in <em>CPAMD8</em> have been linked to anterior segment dysgenesis and primary congenital glaucoma. We utilized CRISPR/Cas9 technology to establish a homozygous <em>CPAMD8</em> knockout human embryonic stem cell line for differentiating retinal organoids, with the intent of exploring the role of <em>CPAMD8</em> in the early development of the human eye. The <em>CPAMD8</em> knockout cell line exhibits normal morphology, pluripotency, and karyotype, serving as a valuable research tool for investigating the functions of <em>CPAMD8</em> in ophthalmology.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103683"},"PeriodicalIF":0.8,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143438203","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 from Charcot-Marie-Tooth type 1B patients harboring autosomal dominant mutations in myelin protein zero gene
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-15 DOI: 10.1016/j.scr.2025.103684
Jingting Zhu , Gongbo Guo , Fatemeh Mehryab , Mary Kate McCulloch , Wilson Marques Junior , Michael E. Shy , Mark E. Hester , Afrooz Rashnonejad
{"title":"Generation of two induced pluripotent stem cell lines from Charcot-Marie-Tooth type 1B patients harboring autosomal dominant mutations in myelin protein zero gene","authors":"Jingting Zhu ,&nbsp;Gongbo Guo ,&nbsp;Fatemeh Mehryab ,&nbsp;Mary Kate McCulloch ,&nbsp;Wilson Marques Junior ,&nbsp;Michael E. Shy ,&nbsp;Mark E. Hester ,&nbsp;Afrooz Rashnonejad","doi":"10.1016/j.scr.2025.103684","DOIUrl":"10.1016/j.scr.2025.103684","url":null,"abstract":"<div><div>Charcot-Marie-Tooth type 1B (CMT1B) is a demyelination neuropathy caused by over 200 mutations in the myelin protein zero (<em>MPZ</em>) gene. Here, we generated two induced pluripotent stem cell (iPSC) lines from fibroblasts isolated from the skin biopsies of CMT1B patients, each carrying a distinct <em>MPZ</em> mutation (Arg98Cys and Ser63del). The iPSC lines created in this work retained their respective <em>MPZ</em> mutation, exhibited normal karyotypes, expressed pluripotency markers, and demonstrated the ability to differentiate into three germ-layer cell types. These lines offer a valuable tool for exploring and modeling dominant CMT1B disease within a human cellular framework.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103684"},"PeriodicalIF":0.8,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143454127","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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