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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 来自女性患者携带WDR45非规范剪接位点c.827 + 1G > a的多能干细胞系CIPi005-A的产生和特性
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 利用CRISPR/Cas9系统构建敲除camd8基因的纯合子人胚胎干细胞系WAe009-A-2R
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 从携带髓鞘蛋白零基因常染色体显性突变的Charcot-Marie-Tooth型1B患者中产生两种诱导多能干细胞系
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
Generation of induced pluripotent stem cell line, NCHi028-A, from a male child with Prune Belly Syndrome 诱导多能干细胞系NCHi028-A的产生，来自一个李子肚综合征的男孩
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-13 DOI: 10.1016/j.scr.2025.103681
Cintia E. Gomez Limia, Karunya Albert, Kusum Basnet, Chaitrali Atre, Hudaa Malik, Darria L. Streeter, Nathalia G. Amado , Linda A. Baker
{"title":"Generation of induced pluripotent stem cell line, NCHi028-A, from a male child with Prune Belly Syndrome","authors":"Cintia E. Gomez Limia,&nbsp;Karunya Albert,&nbsp;Kusum Basnet,&nbsp;Chaitrali Atre,&nbsp;Hudaa Malik,&nbsp;Darria L. Streeter,&nbsp;Nathalia G. Amado ,&nbsp;Linda A. Baker","doi":"10.1016/j.scr.2025.103681","DOIUrl":"10.1016/j.scr.2025.103681","url":null,"abstract":"<div><div>Prune belly syndrome (PBS) is a rare, multi-system congenital myopathy mainly affecting males, whose genetic basis is still being explored. Phenotypically, its morbidity spans from mild to lethal, and PBS cases manifest three cardinal pathological features: wrinkled, flaccid ventral abdominal wall with skeletal muscle deficiency, urinary tract dilation with poorly contractile smooth muscle, and intra-abdominal undescended testes. NCHi028-A is an iPSC line derived from skin fibroblasts of a 1-month-old male with PBS using Sendai Virus reprogramming factors. This iPSC line shows typical iPSC morphology, has normal karyotype, expresses undifferentiated hPSC state markers, and can be differentiated into three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103681"},"PeriodicalIF":0.8,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143519536","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 CNPY3 knock out cell line in the H1 (WA01) hESC background 在H1 (WA01) hESC背景下CNPY3敲除细胞系的产生
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-11 DOI: 10.1016/j.scr.2025.103676
Xing Qi , Feng Yao , Shan Yongli , Zhong Xiaofen
{"title":"Generation of CNPY3 knock out cell line in the H1 (WA01) hESC background","authors":"Xing Qi ,&nbsp;Feng Yao ,&nbsp;Shan Yongli ,&nbsp;Zhong Xiaofen","doi":"10.1016/j.scr.2025.103676","DOIUrl":"10.1016/j.scr.2025.103676","url":null,"abstract":"<div><div>The <em>CNPY3</em> gene encodes a protein that interacts with members of the toll-like receptor (TLR) protein family and functions as a chaperone, aiding in the proper folding and export of these proteins. We generated a homozygous <em>CNPY3</em> knockout human embryonic stem cell (hESC) line WAe001-A-2T (H1-<em>CNPY3</em><sup>−/−</sup>), using CRISPR/Cas9 genome editing technology. The WAe001-A-2T cell line exhibited a normal karyotype and maintained the typical characteristics of undifferentiated hESCs, including pluripotent gene expression and differentiation potential in vivo. The <em>CNPY3</em> knockout cell line serves as a valuable resource for investigating the role of the <em>CNPY3</em> gene in embryonic development and lineage differentiation in vitro.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103676"},"PeriodicalIF":0.8,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143421248","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
Lab resource: Single cell line – template: Establishment of an induced pluripotent stem cell (iPSC) line (JNMUi003-A) from a male patient with schizophrenia 实验室资源：单株细胞系-模板：从男性精神分裂症患者身上建立诱导多能干细胞（iPSC）细胞系（JNMUi003-A）
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-11 DOI: 10.1016/j.scr.2025.103679
Yiliang Liu , Ran Li , Yuxing Long , Meixiang Jiang , Jingyi Xu , Tongyue Chi , Xiaohong Zhang , Hao Yu , Xiaobo Han
{"title":"Lab resource: Single cell line – template: Establishment of an induced pluripotent stem cell (iPSC) line (JNMUi003-A) from a male patient with schizophrenia","authors":"Yiliang Liu ,&nbsp;Ran Li ,&nbsp;Yuxing Long ,&nbsp;Meixiang Jiang ,&nbsp;Jingyi Xu ,&nbsp;Tongyue Chi ,&nbsp;Xiaohong Zhang ,&nbsp;Hao Yu ,&nbsp;Xiaobo Han","doi":"10.1016/j.scr.2025.103679","DOIUrl":"10.1016/j.scr.2025.103679","url":null,"abstract":"<div><div>We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells obtained from a 41-year-old male patient diagnosed with schizophrenia using non-integrating reprogramming techniques. The iPSC lines exhibited normal karyotypes, expressed specific markers of pluripotency, and demonstrated the capacity to differentiate into all three germ layers in vitro. This cell line will serve as a valuable in vitro model for investigating the underlying pathophysiological mechanisms of this disease and identifying novel therapeutic approaches.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103679"},"PeriodicalIF":0.8,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143421247","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 induced pluripotent stem cells line (JNMUi001-A) from peripheral blood mononuclear cells of a male patient with schizophrenia 从男性精神分裂症患者外周血单个核细胞中生成人诱导多能干细胞系（JNMUi001-A）
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-11 DOI: 10.1016/j.scr.2025.103680
Yuxing Long, Meixiang Jiang, Yiliang Liu, Ran Li, Jingyi Xu, Tongyue Chi, Menglu Sun, Miao Li, Hao Yu, Xiaobo Han
{"title":"Generation of a human induced pluripotent stem cells line (JNMUi001-A) from peripheral blood mononuclear cells of a male patient with schizophrenia","authors":"Yuxing Long,&nbsp;Meixiang Jiang,&nbsp;Yiliang Liu,&nbsp;Ran Li,&nbsp;Jingyi Xu,&nbsp;Tongyue Chi,&nbsp;Menglu Sun,&nbsp;Miao Li,&nbsp;Hao Yu,&nbsp;Xiaobo Han","doi":"10.1016/j.scr.2025.103680","DOIUrl":"10.1016/j.scr.2025.103680","url":null,"abstract":"<div><div>We collected a blood sample from a 35-year-old male diagnosed with schizophrenia, isolated peripheral blood mononuclear cells, and generated a human induced pluripotent stem cells (hiPSCs) line using non-integrative reprogramming techniques. The derived cells exhibit characteristics typical of embryonic stem cells, are capable of expressing specific pluripotency markers, and can differentiate into all three embryonic layers in vitro. This iPSCs line serves as an in vitro model for investigating disease mechanisms and for developing novel therapeutic approaches.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103680"},"PeriodicalIF":0.8,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143421246","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
CRISPR/Cas9-mediated generation of a homozygous CBR2 knockout H1 human embryonic stem cell line CRISPR/ cas9介导的纯合子CBR2敲除H1人胚胎干细胞系的产生
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-11 DOI: 10.1016/j.scr.2025.103677
Lei Zhang , Fengfeng Zhang , Mingze Yao
{"title":"CRISPR/Cas9-mediated generation of a homozygous CBR2 knockout H1 human embryonic stem cell line","authors":"Lei Zhang ,&nbsp;Fengfeng Zhang ,&nbsp;Mingze Yao","doi":"10.1016/j.scr.2025.103677","DOIUrl":"10.1016/j.scr.2025.103677","url":null,"abstract":"<div><div>Mutations in the Crumbs homolog 2 (<em>CRB2</em>) gene cause various autosomal recessive genetic diseases, such as leber congenital amaurosis, retinitis pigmentosa and ventriculomegaly with cystic kidney disease. However, the precise roles of CRB2 in cell fate determination remains unknown. Here, we generated a homozygous <em>CRB2</em> knockout (<em>CRB2</em><sup>−/−</sup>) H1 human embryonic stem cells (hESCs) using CRISPR/Cas9 system. This cell line maintained a normal morphology and karyotype, and expressed the pluripotency makers. Importantly, the cell line has the ability to differentiate into three germ layers. The <em>CRB2</em><sup>−/−</sup> hESCs provide valuable resources for studying the mechanisms of genetic diseases caused by <em>CRB2</em> mutations.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103677"},"PeriodicalIF":0.8,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143464896","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 Notch3 R133C mutation by CRISPR/Cas9: A tool for investigating CADASIL and therapeutic targets 利用CRISPR/Cas9构建Notch3 R133C突变的人类iPSC系：研究CADASIL和治疗靶点的工具
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-11 DOI: 10.1016/j.scr.2025.103678
Sema Aygar, Laurence Daheron
{"title":"Generation of a human iPSC line with Notch3 R133C mutation by CRISPR/Cas9: A tool for investigating CADASIL and therapeutic targets","authors":"Sema Aygar,&nbsp;Laurence Daheron","doi":"10.1016/j.scr.2025.103678","DOIUrl":"10.1016/j.scr.2025.103678","url":null,"abstract":"<div><div>Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare neuro vascular disease that is caused by mutations in Notch3. Here, we developed an iPSC line harboring the R133C mutation in Notch3, which is among the most common mutations leading to CADASIL. This mutation alters the disulfide bonding pattern leading to Notch3 protein aggregation, granular osmiophilic material (GOM) formation and vascular changes. The iPSC line was generated using CRISPR/Cas9 and edits were confirmed by PCR and Sanger sequencing. This resource is a valuable tool for studying molecular mechanisms of CADASIL and enabling the development and screening of targeted therapies for Notch3-related pathologies.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103678"},"PeriodicalIF":0.8,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143444652","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 ten human induced pluripotent stem cell lines (hiPSCs) from patients with and without Chemotherapy-Induced Peripheral Neuropathy (CIPN) and Post Chemotherapy Cognitive Impairment (PCCI) 从化疗诱导的周围神经病变（CIPN）和化疗后认知障碍（PCCI）患者中获得10种人诱导多能干细胞系（hiPSCs）
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-02-09 DOI: 10.1016/j.scr.2025.103674
Karyn Lewis , Valeria Fernandez Vallone , Adam Dordevic , Johannes Kern , Harald Stachelscheid , Matthias Endres , Wolfgang Boehmerle , Petra Huehnchen , Christian Schinke
{"title":"Generation of ten human induced pluripotent stem cell lines (hiPSCs) from patients with and without Chemotherapy-Induced Peripheral Neuropathy (CIPN) and Post Chemotherapy Cognitive Impairment (PCCI)","authors":"Karyn Lewis ,&nbsp;Valeria Fernandez Vallone ,&nbsp;Adam Dordevic ,&nbsp;Johannes Kern ,&nbsp;Harald Stachelscheid ,&nbsp;Matthias Endres ,&nbsp;Wolfgang Boehmerle ,&nbsp;Petra Huehnchen ,&nbsp;Christian Schinke","doi":"10.1016/j.scr.2025.103674","DOIUrl":"10.1016/j.scr.2025.103674","url":null,"abstract":"<div><div>Chemotherapy-induced peripheral neuropathy (CIPN) and post-chemotherapy cognitive impairment (PCCI) represent major side effects of chemotherapy. Using Sendai virus vectors, ten hiPSC lines from patients who had undergone chemotherapy and did or did not develop CIPN and PCCI were generated. Each line was characterized to confirm markers of the undifferentiated state, differentiation potential, genomic integrity, identity verification and reprogramming vector removal. These lines serve as a valuable resource to create two disease models for 1) CIPN (hiPSC lines from five patients with CIPN vs. five without CIPN) and 2) PCCI (hiPSC lines from four patients with PCCI vs. five without PCCI).</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103674"},"PeriodicalIF":0.8,"publicationDate":"2025-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143488576","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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