{"title":"Generation of two induced pluripotent stem cell (iPSC) lines (HZSMHCI001-A and HZSMHCI004-A) from a mother–child dyad with major depressive disorder and bipolar disorder","authors":"Jun Zhao , Xiaoying Zhang , Chuqing Zhou , Youhui Jiang , Xiaoyi Tian , Xinyi Ren , Peiyan Ni , Jiangyong Qu","doi":"10.1016/j.scr.2026.103920","DOIUrl":"10.1016/j.scr.2026.103920","url":null,"abstract":"<div><div>Bipolar disorder (BD) and major depressive disorder (MDD) are severe, heritable psychiatric illnesses. Here, we report the generation of two induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells of a female with MDD (HZSMHCI004-A) and her son with BD (HZSMHCI001-A). Reprogramming was achieved using non-integrating episomal vectors. Both iPSC lines exhibit normal karyotypes, express key pluripotency markers, and demonstrate the capacity to differentiate into derivatives of all three germ layers <em>in vivo</em> via teratoma formation assays. These cell lines represent a valuable resource for investigating the distinct and shared pathophysiology of MDD and BD on a controlled genetic background.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103920"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146126598","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}
Stem cell researchPub Date : 2026-03-01Epub Date: 2026-02-03DOI: 10.1016/j.scr.2026.103922
Inbal Kantor , Jordan L. Wright , David J. Amor , Paul J. Lockhart
{"title":"Generation of two tetracycline-inducible NGN2 iN iPSC lines carrying a heterozygous floating-Harbor syndrome SRCAP truncating mutation","authors":"Inbal Kantor , Jordan L. Wright , David J. Amor , Paul J. Lockhart","doi":"10.1016/j.scr.2026.103922","DOIUrl":"10.1016/j.scr.2026.103922","url":null,"abstract":"<div><div>Floating-Harbor syndrome (FHS) is a rare neurodevelopmental disorder caused by truncating variants in the last two exons of the gene encoding the chromatin remodeler SRCAP. We used CRISPR-Cas9 genome editing to introduce a monoallelic c.7330C > T (p.Arg2444*) truncating mutation into a published WTC11 iPSC line containing a tetracycline-inducible NGN2 transgene. We characterised two independent lines that maintained a normal karyotype, pluripotency and the ability to differentiate <em>in vitro</em> into all three embryonic germ layers. These lines can be rapidly differentiated into cortical neurons through the addition of doxycycline, making them a useful model for understanding the pathogenic mechanisms underlying FHS.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103922"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146143415","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}
Stem cell researchPub Date : 2026-03-01Epub Date: 2026-02-04DOI: 10.1016/j.scr.2026.103923
Qiaorong Li , Huan Zhang , Wandong Hu , Wenchao Zhang , Pingping Tian
{"title":"Characterization of an induced pluripotent stem cell line (SDCHi010-A) from a young patient with epilepsy","authors":"Qiaorong Li , Huan Zhang , Wandong Hu , Wenchao Zhang , Pingping Tian","doi":"10.1016/j.scr.2026.103923","DOIUrl":"10.1016/j.scr.2026.103923","url":null,"abstract":"<div><div>Epilepsy is a group of chronic brain disorders characterized by recurrent, episodic, and transient dysfunction of the central nervous system caused by abnormal, excessive neuronal discharges. In this study, peripheral blood mononuclear cells (PBMCs) were isolated from a young patient bearing an FGF12 gene mutation and suffering from clinically and genetically diagnosed epilepsy. Induced pluripotent stem cells (iPSCs) were established using a non-integrative method involving plasmids carrying OCT4, SOX2, KLF4, BCL-XL, and C-MYC. The resulting iPSCs exhibited typical pluripotent cell morphology, a normal karyotype, and the potential to differentiate into all three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103923"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146143431","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}
Stem cell researchPub Date : 2026-03-01Epub Date: 2026-01-13DOI: 10.1016/j.scr.2026.103912
Jin Zhao , Rong Hu , Kuan Chen Lai , Yaling Liu , Gordon G. Carmichael , Donna M. Martin , Laijun Lai
{"title":"Generation of induced pluripotent stem cells from a patient with CHARGE syndrome with athymia, harboring a heterozygous mutation in CHD7","authors":"Jin Zhao , Rong Hu , Kuan Chen Lai , Yaling Liu , Gordon G. Carmichael , Donna M. Martin , Laijun Lai","doi":"10.1016/j.scr.2026.103912","DOIUrl":"10.1016/j.scr.2026.103912","url":null,"abstract":"<div><div>CHARGE syndrome is a rare, complex congenital disorder affecting multiple organ systems, with <em>CHD7</em> identified as its primary causative gene. Individuals with CHARGE syndrome can exhibit T cell immunodeficiency, which compromises adaptive immunity and increases susceptibility to infections. T cell immunodeficiency in CHARGE syndrome is largely attributed to thymic hypo/aplasia. In this study, we generated an induced pluripotent stem cell (iPSC) line from the blood of a 21-month-old female with CHARGE syndrome and athymia who carries a <em>de novo CHD7</em> pathogenic variant, c.1366C > T (p.Q456*). This iPSC line provides a valuable model for investigating the pathogenesis of CHARGE-associated T cell immunodeficiency.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103912"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145980562","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}
Stem cell researchPub Date : 2026-03-01Epub Date: 2026-01-09DOI: 10.1016/j.scr.2026.103907
Shekhar Patil , Arghakusum Das , Maneesha S. Inamdar
{"title":"Generation of a Brachyury reporter cell line (BJNhem20 Brachyury (TBXT)-2A-EGFP) in human embryonic stem cells using CRISPR-Cas9 gene targeting","authors":"Shekhar Patil , Arghakusum Das , Maneesha S. Inamdar","doi":"10.1016/j.scr.2026.103907","DOIUrl":"10.1016/j.scr.2026.103907","url":null,"abstract":"<div><div>Brachyury is a key transcription factor, which is required for mesoderm lineage development. Here, we have generated a Brachyury/TBXT-2A-EGFP knock-in Reporter line in the BJNhem20 human embryonic stem cell line, using CRISPR/Cas9-based gene editing. Successful gene editing was verified by DNA sequencing and comparing endogenous gene expression to reporter gene expression. This reporter line represents an important tool for tracking and assessing mesoderm differentiation.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103907"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145980565","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}
Stem cell researchPub Date : 2026-03-01Epub Date: 2026-01-07DOI: 10.1016/j.scr.2026.103908
Shruthi Suryaprakash , Yan Ju , James P. Papizan , Shondra M. Pruett-Miller , Marcin W. Wlodarski , Mitchell J. Weiss , Lei Han , Senthil Velan Bhoopalan
{"title":"Generation of iPSC and isogenic gene-corrected lines from a patient with RPS7 (c.277_279delGTC)-mutated Diamond-Blackfan anemia syndrome","authors":"Shruthi Suryaprakash , Yan Ju , James P. Papizan , Shondra M. Pruett-Miller , Marcin W. Wlodarski , Mitchell J. Weiss , Lei Han , Senthil Velan Bhoopalan","doi":"10.1016/j.scr.2026.103908","DOIUrl":"10.1016/j.scr.2026.103908","url":null,"abstract":"<div><div>Diamond-Blackfan anemia syndrome (DBAS) is a heterogeneous genetic bone marrow failure disorder characterized by erythroid hypoplasia in young children. Most forms of DBAS are caused by heterozygous loss-of-function mutations in one of the 24 different ribosomal protein genes. We generated an iPSC line from a patient with a heterozygous <em>RPS7</em> (c.277_279delGTC) mutation, along with a corresponding isogenic cell line wherein the mutation was corrected using Cas9-mediated homology-directed repair.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103908"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145966973","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}
Stem cell researchPub Date : 2026-03-01Epub Date: 2026-01-04DOI: 10.1016/j.scr.2026.103905
Vukasin M. Jovanovic , Rick Rausch , Maria Caterina DeRosa , David Castellano , Cody McKee , Chaitali Sen , Fiona Daly , Claudia A. Doege , Carlos A. Tristan
{"title":"Generation and characterization of POMC-tdTomato reporter human pluripotent stem cell lines","authors":"Vukasin M. Jovanovic , Rick Rausch , Maria Caterina DeRosa , David Castellano , Cody McKee , Chaitali Sen , Fiona Daly , Claudia A. Doege , Carlos A. Tristan","doi":"10.1016/j.scr.2026.103905","DOIUrl":"10.1016/j.scr.2026.103905","url":null,"abstract":"<div><div>Proopiomelanocortin (POMC) is a precursor polypeptide that undergoes extensive, tissue-specific post-translational processing. It is expressed in several tissues, including pituitary gland, hypothalamus, brain stem, and skin. The hypothalamic POMC neurons in the arcuate nucleus are major neuronal populations involved in the regulation of body weight. In these neurons, POMC is processed into several peptides, among them the anorexigenic alpha-melanocyte stimulating hormone. Thus, the POMC neurons in the ARC have been named “satiety” neurons and are highly desirable drug targets. Here, we performed CRISPR/Cas9-mediated insertion of tdTomato reporter at the endogenous <em>POMC</em> locus, enabling direct visualization of POMC expression through tdTomato fluorescence in human pluripotent stem cell (hPSC)-derived hypothalamic neurons. This reporter line enables real-time visualization of POMC neuron differentiation, and selective enrichment of these populations for molecular, functional, and pharmacological studies. This line is readily available as new alternative method (NAM) platform, to support disease modeling and drug discovery in metabolic and neuroendocrine disorders within a human context.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103905"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146038988","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}
Stem cell researchPub Date : 2026-03-01Epub Date: 2026-01-29DOI: 10.1016/j.scr.2026.103916
Weihua Yuan , Qiang Gao , Xiwang Liu , Liyang Ying , Xicheng Zhang , Xiangming Fan
{"title":"Generation of human induced pluripotent stem cell line derived from dilated cardiomyopathy with compound heterozygous TTN and TAB2 variants","authors":"Weihua Yuan , Qiang Gao , Xiwang Liu , Liyang Ying , Xicheng Zhang , Xiangming Fan","doi":"10.1016/j.scr.2026.103916","DOIUrl":"10.1016/j.scr.2026.103916","url":null,"abstract":"<div><div>Dilated cardiomyopathy (DCM) represents the most prevalent form of cardiomyopathy. Multiple genetic variants are linked to DCM severity. We have established a human induced pluripotent stem cell (iPSC) line derived from a DCM patient harboring the p.M17164T (c.51491T>C) and p.Y138C (c.413A>G) mutations in the Titin (TTN) gene, as well as the p.Q3_S5del (c.9_17del) deletion in the TAB2 gene. The established iPSCs exhibited a normal karyotype (46, XX) and expressed pluripotency markers, successfully differentiating into cardiomyocytes. This cell line serves as a valuable resource for investigating the pathogenic mechanisms underlying DCM associated with TTN and TAB2 variants.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103916"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146126581","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}
Stem cell researchPub Date : 2026-03-01Epub Date: 2026-02-07DOI: 10.1016/j.scr.2026.103926
Mey-Sam Chorsi , Byron J.W.H. Mui , Renke Tan , Haley M. Fernandez , Lingyun Xu , Jade T. Chao , Jacinda B. Sampson , Matthew T. Wheeler , Joseph C. Wu
{"title":"Generation of induced pluripotent stem cell lines from patients with Emery-Dreifuss muscular dystrophy","authors":"Mey-Sam Chorsi , Byron J.W.H. Mui , Renke Tan , Haley M. Fernandez , Lingyun Xu , Jade T. Chao , Jacinda B. Sampson , Matthew T. Wheeler , Joseph C. Wu","doi":"10.1016/j.scr.2026.103926","DOIUrl":"10.1016/j.scr.2026.103926","url":null,"abstract":"<div><div>Emery-Dreifuss muscular dystrophy (EDMD) stems from pathogenic variants in LMNA. We generated two patient-specific iPSC lines from peripheral blood: SCVIi145-A carrying LMNA c.241T > C (p.Tyr81His) and SCVIi146-A carrying LMNA c.357-2A > G. Non-integrating Sendai reprogramming produced stable colonies that expressed undifferentiated human induced pluripotent stem cell (iPSC) state markers, cleared vector RNA by passage 16, and showed normal copy-number profiles by <del>l</del>ow-pass whole-genome sequencing (LP-WGS). Both lines matched donor STR profiles and formed ectoderm, mesoderm, and endoderm in directed differentiation. These lines enable studies of lamin-associated nuclear defects and support cardiac and skeletal muscle disease modeling.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103926"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146189606","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}
Stem cell researchPub Date : 2026-03-01Epub Date: 2026-01-26DOI: 10.1016/j.scr.2026.103917
Xingsheng Peng , Yuan Li , Meiling Zhang , Huijun Wang , Wenhao Zhou , Man Xiong
{"title":"Generation of a human induced pluripotent stem cell line (FDIBSi002-A) derived from a patient with DYRK1A syndrome carrying a heterozygous DYRK1A mutation (c.1042G>A)","authors":"Xingsheng Peng , Yuan Li , Meiling Zhang , Huijun Wang , Wenhao Zhou , Man Xiong","doi":"10.1016/j.scr.2026.103917","DOIUrl":"10.1016/j.scr.2026.103917","url":null,"abstract":"<div><div>DYRK1A syndrome is a neurodevelopmental disorder caused by DYRK1A haploinsufficiency. We generated a human induced pluripotent stem cell (iPSC) line, FDIBSi002-A, from a 4-year-old female patient carrying a <em>de novo</em> heterozygous c.1042G>A (p.G348R) mutation in <em>DYRK1A</em>. Peripheral blood mononuclear cells (PBMCs) were reprogrammed using non-integrating episomal vectors. The established iPSC line exhibited a normal karyotype (46, XX), expressed pluripotency markers, and demonstrated trilineage differentiation potential. This patient-specific cell line provides a valuable model for investigating the pathogenic mechanisms of DYRK1A-related intellectual disability and for drug screening.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103917"},"PeriodicalIF":0.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146090312","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}