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 , Gongbo Guo , Fatemeh Mehryab , Mary Kate McCulloch , Wilson Marques Junior , Michael E. Shy , Mark E. Hester , 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}
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, Karunya Albert, Kusum Basnet, Chaitrali Atre, Hudaa Malik, Darria L. Streeter, Nathalia G. Amado , 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}
{"title":"Generation of CNPY3 knock out cell line in the H1 (WA01) hESC background","authors":"Xing Qi , Feng Yao , Shan Yongli , 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}
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 , Ran Li , Yuxing Long , Meixiang Jiang , Jingyi Xu , Tongyue Chi , Xiaohong Zhang , Hao Yu , 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}
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, Meixiang Jiang, Yiliang Liu, Ran Li, Jingyi Xu, Tongyue Chi, Menglu Sun, Miao Li, Hao Yu, 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}
{"title":"CRISPR/Cas9-mediated generation of a homozygous CBR2 knockout H1 human embryonic stem cell line","authors":"Lei Zhang , Fengfeng Zhang , 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}
{"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, 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}
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 , Valeria Fernandez Vallone , Adam Dordevic , Johannes Kern , Harald Stachelscheid , Matthias Endres , Wolfgang Boehmerle , Petra Huehnchen , 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}
Vanessa G. Crossman , Chrystal F. Tiong , Chantal A. Coles , Kiymet Bozaoglu , Robin Forbes , Eppie M. Yiu , Avnika A. Ruparelia , Peter D. Currie , Katerina Vlahos , Sara E Howden , Kathryn N. North , Shireen R. Lamandé , Peter J. Houweling
{"title":"Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient","authors":"Vanessa G. Crossman , Chrystal F. Tiong , Chantal A. Coles , Kiymet Bozaoglu , Robin Forbes , Eppie M. Yiu , Avnika A. Ruparelia , Peter D. Currie , Katerina Vlahos , Sara E Howden , Kathryn N. North , Shireen R. Lamandé , Peter J. Houweling","doi":"10.1016/j.scr.2025.103673","DOIUrl":"10.1016/j.scr.2025.103673","url":null,"abstract":"<div><div>To produce an <em>in vitro</em> model of Bethlem myopathy, we reprogrammed the peripheral blood mononuclear cells (PBMCs) of a patient with a heterozygous COL6A1 c.1056 + 2T > A mutation at the exon/intron 14 boundary of the <em>COL6A1</em> gene to induced pluripotent stem cells (iPSCs). Using CRISPR/Cas9 gene editing, we corrected the mutation to generate an isogenic control line. Both the patient and isogenic control iPSCs show a normal karyotype, express pluripotency markers and can differentiate into cell states that represent the three embryonic germ layers (endoderm, mesoderm and ectoderm). These cell lines will be differentiated and used to explore disease mechanisms and evaluate novel therapeutics for Bethlem myopathy.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103673"},"PeriodicalIF":0.8,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143421245","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":"An induced pluripotent stem cell line, NIMHi014-A, generated from PBMCs of an epileptic patient harbouring a variant of the SCN1A gene","authors":"Madhura Milind Nimonkar , Gautham Arunachal , Ananthapadmanabha Kotambail , Ramya Sukrutha , Kenchaiah Raghavendra , Ghati K Chetan , Bhupesh Mehta , Yogananda S. Markandeya","doi":"10.1016/j.scr.2025.103672","DOIUrl":"10.1016/j.scr.2025.103672","url":null,"abstract":"<div><div>We report the iPSC line NIMHi014-A, generated from the PBMCs of an epileptic girl child. The proband harbours a <em>de novo,</em> pathogenic variant of the <em>SCN1A</em> gene, which encodes the Na<sub>V</sub>1.1 subtype of the voltage gated sodium channel. The cell line NIMHi014-A displayed typical iPSC-like morphology, expressed stemness markers and possessed trilineage differentiation potency. The cells presented a normal karyotype and had no mycoplasma contamination. This cell line will be used to study mechanism of epilepsy and develop patient specific therapies.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103672"},"PeriodicalIF":0.8,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143372717","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}