Pub 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
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 RPS7 (c.277_279delGTC) mutation, along with a corresponding isogenic cell line wherein the mutation was corrected using Cas9-mediated homology-directed repair.
{"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":"2026-01-07","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}
Pub Date : 2026-01-06DOI: 10.1016/j.scr.2025.103901
Soha Patil , Naresh Patel , Rikhil Makwana , Manali Nikte , Dorota Moroziewicz , NYSCF Global Stem Cell Array® Team , Matt Zimmer , Christopher Hunter , Frederick J. Monsma Jr. , Daniel Paull , Josephine Wesely , Gholson J. Lyon
Ogden Syndrome, also known as NAA10-related neurodevelopmental disorder, is an X-linked disease caused by pathologic variants in NAA10, the catalytic sub-unit of the NatA N-α-terminal acetyltransferase, and characterized by variable neurologic, behavioral, and cardiovascular deficits. We present the generation of 2 isogenic pairs of patient-derived iPSCs having a R83C mutation in NAA10. A male hemizygous NAA10 line which was corrected to WT, and a female heterozygous which was edited to be WT/WT as well as R83C/R83C. Combined with the published cohort of >30 NAA10-related syndrome patient iPSC lines and isogenic pairs it represents a powerful cohort to investigate NAA10-related syndrome (Wesely et al., 2024).
奥格登综合征，也被称为NAA10相关神经发育障碍，是一种由NAA10的病理变异引起的x连锁疾病，NAA10是NatA N-α-末端乙酰转移酶的催化亚基，其特征是可变的神经、行为和心血管缺陷。我们提出了2对具有NAA10 R83C突变的患者来源的iPSCs。一个雄性半合子NAA10株系被编辑为WT，一个雌性杂合株系被编辑为WT/WT和R83C/R83C。结合已发表的30个naa10相关综合征患者iPSC系和等基因对队列，它代表了一个研究naa10相关综合征的强大队列（Wesely et al., 2024）。
{"title":"Generation of a male isogenic pair and a female isogenic pair(R83C) for studying NAA10-related syndrome as part of a large Ogden syndrome biobank","authors":"Soha Patil , Naresh Patel , Rikhil Makwana , Manali Nikte , Dorota Moroziewicz , NYSCF Global Stem Cell Array® Team , Matt Zimmer , Christopher Hunter , Frederick J. Monsma Jr. , Daniel Paull , Josephine Wesely , Gholson J. Lyon","doi":"10.1016/j.scr.2025.103901","DOIUrl":"10.1016/j.scr.2025.103901","url":null,"abstract":"<div><div>Ogden Syndrome, also known as <em>NAA10</em>-related neurodevelopmental disorder, is an X-linked disease caused by pathologic variants in <em>NAA10</em>, the catalytic sub-unit of the NatA N-α-terminal acetyltransferase, and characterized by variable neurologic, behavioral, and cardiovascular deficits. We present the generation of 2 isogenic pairs of patient-derived iPSCs having a R83C mutation in NAA10. A male hemizygous NAA10 line which was corrected to WT, and a female heterozygous which was edited to be WT/WT as well as R83C/R83C. Combined with the published cohort of >30 NAA10-related syndrome patient iPSC lines and isogenic pairs it represents a powerful cohort to investigate NAA10-related syndrome (<span><span>Wesely et al., 2024</span></span>).</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103901"},"PeriodicalIF":0.7,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145980564","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}
Pub Date : 2026-01-06DOI: 10.1016/j.scr.2026.103906
Wan Hua , Libo Liu , Lanchen Wang , Wenyu Xiong, Huijun Yuan, Jing Cheng
Heterozygous TBX2 mutations cause a novel syndrome with hearing loss and incomplete nystagmus, while its pathogenic mechanism remains unclear. Here, we established the iPSC line IRDWCHi001-A from peripheral blood mononuclear cells of a patient carrying TBX2 c.977delA (p.D326Afs*42) via Sendai virus reprogramming. The generated iPSC line showed typical stem cell morphology, pluripotency marker expression, normal karyotype, and trilineage differentiation potential. It provides a valuable resource for modeling TBX2-associated hearing loss and investigating its underlying mechanisms.
{"title":"Generation of induced pluripotent stem cell line IRDWCHi001-A from a patient with hearing loss and nystagmus carrying the heterozygous TBX2 c.977delA (p.D326Afs*42) mutation","authors":"Wan Hua , Libo Liu , Lanchen Wang , Wenyu Xiong, Huijun Yuan, Jing Cheng","doi":"10.1016/j.scr.2026.103906","DOIUrl":"10.1016/j.scr.2026.103906","url":null,"abstract":"<div><div>Heterozygous <em>TBX2</em> mutations cause a novel syndrome with hearing loss and incomplete nystagmus, while its pathogenic mechanism remains unclear. Here, we established the iPSC line IRDWCHi001-A from peripheral blood mononuclear cells of a patient carrying <em>TBX2</em> c.977delA (p.D326Afs*42) via Sendai virus reprogramming. The generated iPSC line showed typical stem cell morphology, pluripotency marker expression, normal karyotype, and trilineage differentiation potential. It provides a valuable resource for modeling <em>TBX2</em>-associated hearing loss and investigating its underlying mechanisms.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103906"},"PeriodicalIF":0.7,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145925348","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}
Pub 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
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 POMC 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.
{"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":"2026-01-04","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}
Pub Date : 2026-01-03DOI: 10.1016/j.scr.2025.103903
Jiaxuan Wang , Aoyu Hu , Hongying Zhao , Biqing Cao , Shan Wang , Min Ma , Qian Ren
The CHMP2B gene is recognized as a causative factor in neurodegenerative disorders, particularly frontotemporal dementia (FTD). In this study, peripheral blood mononuclear cells (PBMCs) were obtained from a FTD patient carrying a heterozygous CHMP2B c.532–2 (A > T) mutation and successfully reprogrammed into induced pluripotent stem cell (iPSC) line HMSCATi009-A. The resulting iPSC line exhibited a normal karyotype, expressed high levels of core pluripotency markers, and retained the potential to differentiate into derivatives of all three germ layers, ectoderm, mesoderm, and endoderm. Furthermore, the iPSC line was verified negative for mycoplasma contamination. This patient-specific iPSC line constitutes a physiologically relevant platform for elucidating FTD pathogenic mechanisms and supporting screening for novel therapeutics.
{"title":"Generation and validation of an iPSC line HMSCATi009-A from a patient with frontotemporal dementia","authors":"Jiaxuan Wang , Aoyu Hu , Hongying Zhao , Biqing Cao , Shan Wang , Min Ma , Qian Ren","doi":"10.1016/j.scr.2025.103903","DOIUrl":"10.1016/j.scr.2025.103903","url":null,"abstract":"<div><div>The <em>CHMP2B</em> gene is recognized as a causative factor in neurodegenerative disorders, particularly frontotemporal dementia (FTD). In this study, peripheral blood mononuclear cells (PBMCs) were obtained from a FTD patient carrying a heterozygous <em>CHMP2B</em> c.532–2 (A > T) mutation and successfully reprogrammed into induced pluripotent stem cell (iPSC) line HMSCATi009-A. The resulting iPSC line exhibited a normal karyotype, expressed high levels of core pluripotency markers, and retained the potential to differentiate into derivatives of all three germ layers, ectoderm, mesoderm, and endoderm. Furthermore, the iPSC line was verified negative for mycoplasma contamination. This patient-specific iPSC line constitutes a physiologically relevant platform for elucidating FTD pathogenic mechanisms and supporting screening for novel therapeutics.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103903"},"PeriodicalIF":0.7,"publicationDate":"2026-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145925347","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}
Pub Date : 2026-01-01DOI: 10.1016/j.scr.2025.103904
Kiymet Bozaoglu , Sarah Massie , Friederike Elise Irion , Kayli C. Davies , Inbal Kantor , Mai Raabus , Kristina M. Haebich , Katerina Vlahos , Sara E Howden , Jordan Wright , Jonathan M. Payne , Paul J. Lockhart
Neurofibromatosis type 1 (NF1) is a neurodevelopmental disorder that affects ∼ 1: 2700 individuals (Lee et al., 2023) however the underlying pathogenic mechanisms are poorly understood. In this study, we performed simultaneous reprogramming and CRISPR-Cas9 genome editing to generate pluripotent stem cell (iPSCs) lines and their respective isogenic controls from six individuals with different pathogenic NF1 variants. All iPSC lines had a normal karyotype, were pluripotent and able to differentiate into the three embryonic germ layers. These iPSC lines are valuable pre-clinical models to investigate the pathomechanisms of NF1 and can be used for future screening to identify new therapeutic treatments for NF1.
{"title":"Simultaneous reprogramming and gene correction to generate six iPSC lines and isogenic controls from individuals with neurofibromatosis type 1","authors":"Kiymet Bozaoglu , Sarah Massie , Friederike Elise Irion , Kayli C. Davies , Inbal Kantor , Mai Raabus , Kristina M. Haebich , Katerina Vlahos , Sara E Howden , Jordan Wright , Jonathan M. Payne , Paul J. Lockhart","doi":"10.1016/j.scr.2025.103904","DOIUrl":"10.1016/j.scr.2025.103904","url":null,"abstract":"<div><div>Neurofibromatosis type 1 (NF1) is a neurodevelopmental disorder that affects ∼ 1: 2700 individuals (<span><span>Lee et al., 2023</span></span>) however the underlying pathogenic mechanisms are poorly understood. In this study, we performed simultaneous reprogramming and CRISPR-Cas9 genome editing to generate pluripotent stem cell (iPSCs) lines and their respective isogenic controls from six individuals with different pathogenic NF1 variants. All iPSC lines had a normal karyotype, were pluripotent and able to differentiate into the three embryonic germ layers. These iPSC lines are valuable pre-clinical models to investigate the pathomechanisms of NF1 and can be used for future screening to identify new therapeutic treatments for NF1.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103904"},"PeriodicalIF":0.7,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913090","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}
Epilepsy is a chronic neurological disorder characterized by recurrent seizures. The condition can develop at any age, with particularly high prevalence in infancy and old age. Here, we generated a human induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) obtained from a 5-year-old girl diagnosed with epilepsy carrying a heterozygous PCDH19 mutation (c.380C > T; p.Pro127Leu). The established iPSC line exhibited a normal karyotype, expressed key pluripotency markers, and was confirmed to be free of episomal reprogramming vector integration. Moreover, the iPSCs demonstrated robust in vitro differentiation potential into cell types representative of all three germ layers.
{"title":"Establishment and characterization of a human induced pluripotent stem cell line from a child with epilepsy","authors":"Wei Jiang , Chuanmei Chen , Hongwei Zhang , Shuxia Zhu","doi":"10.1016/j.scr.2025.103900","DOIUrl":"10.1016/j.scr.2025.103900","url":null,"abstract":"<div><div>Epilepsy is a chronic neurological disorder characterized by recurrent seizures. The condition can develop at any age, with particularly high prevalence in infancy and old age. Here, we generated a human induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) obtained from a 5-year-old girl diagnosed with epilepsy carrying a heterozygous PCDH19 mutation (c.380C > T; p.Pro127Leu). The established iPSC line exhibited a normal karyotype, expressed key pluripotency markers, and was confirmed to be free of episomal reprogramming vector integration. Moreover, the iPSCs demonstrated robust in vitro differentiation potential into cell types representative of all three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103900"},"PeriodicalIF":0.7,"publicationDate":"2025-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913082","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}
The DMD gene, which encodes the protein dystrophin, is involved in a group of diseases known as dystrophinopathies, which includes Duchenne Muscular Dystrophy (DMD). DMD is a progressive and lethal muscular disorder mainly affecting boys that results from the loss of function of the longer dystrophin isoform DP427 in skeletal muscles. Dystrophinopathies are also associated with poorly understood neurocognitive and neurodevelopmental disorders. To investigate the role of dystrophin isoforms in neural development, we specifically disrupted three dystrophin isoforms expressed in the brain, namely DP427, DP140 and DP71, in the male human embryonic stem cell line SA001 using the CRISPR/Cas9 system. (100 / 100 words)
{"title":"Knock-out of specific DMD gene isoforms in the parental hESC line SA001 using CRISPR/Cas9","authors":"Laure Chatrousse , Thifaine Poullion , Hamel Mahiou , Lina El-Kassar , Karine Giraud-Triboult , Claire Boissart , Alexandra Benchoua","doi":"10.1016/j.scr.2025.103899","DOIUrl":"10.1016/j.scr.2025.103899","url":null,"abstract":"<div><div>The DMD gene, which encodes the protein dystrophin, is involved in a group of diseases known as dystrophinopathies, which includes Duchenne Muscular Dystrophy (DMD). DMD is a progressive and lethal muscular disorder mainly affecting boys that results from the loss of function of the longer dystrophin isoform DP427 in skeletal muscles. Dystrophinopathies are also associated with poorly understood neurocognitive and neurodevelopmental disorders. To investigate the role of dystrophin isoforms in neural development, we specifically disrupted three dystrophin isoforms expressed in the brain, namely DP427, DP140 and DP71, in the male human embryonic stem cell line SA001 using the CRISPR/Cas9 system. (100 / 100 words)</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103899"},"PeriodicalIF":0.7,"publicationDate":"2025-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913210","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}
Pub Date : 2025-12-26DOI: 10.1016/j.scr.2025.103897
Jinyi Wang , Yimeng Gao , Kangxin Jin , Zi-Bing Jin , Jia Xu
RB1 is a tumor suppressor gene which plays a crucial role in cell cycle and cellular differentiation. Mutations or loss of RB1 are associated with retinoblastoma and a variety of other cancers. We generated RB1 knockout human embryonic stem cell (hESC) lines (H9) using CRISPR/Cas9-mediated gene targeting. These RB1-deficient cell lines maintain typical stem cell morphology, normal karyotype and expression of pluripotent marker genes. Furthermore, they retain their in vivo differentiation capacity, enabling the generation of multiple cell lineages. These RB1 knockout hESC lines provide valuable models for investigating the role of RB1 in tumorigenesis, neurodevelopment, and cell cycle regulation.
{"title":"Generation of RB1 knockout human embryonic stem cell lines derived from H9 using CRISPR/Cas9","authors":"Jinyi Wang , Yimeng Gao , Kangxin Jin , Zi-Bing Jin , Jia Xu","doi":"10.1016/j.scr.2025.103897","DOIUrl":"10.1016/j.scr.2025.103897","url":null,"abstract":"<div><div>RB1 is a tumor suppressor gene which plays a crucial role in cell cycle and cellular differentiation. Mutations or loss of RB1 are associated with retinoblastoma and a variety of other cancers. We generated RB1 knockout human embryonic stem cell (hESC) lines (H9) using CRISPR/Cas9-mediated gene targeting. These RB1-deficient cell lines maintain typical stem cell morphology, normal karyotype and expression of pluripotent marker genes. Furthermore, they retain their in vivo differentiation capacity, enabling the generation of multiple cell lineages. These RB1 knockout hESC lines provide valuable models for investigating the role of RB1 in tumorigenesis, neurodevelopment, and cell cycle regulation.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103897"},"PeriodicalIF":0.7,"publicationDate":"2025-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913259","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}
Pub Date : 2025-12-24DOI: 10.1016/j.scr.2025.103898
Julia Grüner , Eva Klopocki , Nurcan Üçeyler
Bortezomib-induced peripheral neuropathy (BIPN) is a frequent, dose-limiting side effect in multiple myeloma (MM) patients treated with the proteasome inhibitor bortezomib (BTZ). To study the pathophysiology of pain in BIPN, we generated three induced pluripotent stem cell (iPSC) clones from human dermal fibroblasts (hdF) of a MM patient who developed painful BIPN and carried two homozygous risk variants (rs2839629 and rs915854). All clones exhibited typical iPSC morphology, expressed pluripotency markers, possessed normal karyotypes, and differentiated into all three germ layers. This patient-specific iPSC line provides an in vitro model to investigate genetic susceptibility and molecular mechanisms underlying pain in BIPN.
{"title":"Generation of the human induced pluripotent stem cell line UKWNLi010 derived from a patient carrying two homozygous single nucleotide polymorphisms (rs2839629 and rs915854) associated with an increased risk of painful bortezomib-induced peripheral neuropathy","authors":"Julia Grüner , Eva Klopocki , Nurcan Üçeyler","doi":"10.1016/j.scr.2025.103898","DOIUrl":"10.1016/j.scr.2025.103898","url":null,"abstract":"<div><div>Bortezomib-induced peripheral neuropathy (BIPN) is a frequent, dose-limiting side effect in multiple myeloma (MM) patients treated with the proteasome inhibitor bortezomib (BTZ). To study the pathophysiology of pain in BIPN, we generated three induced pluripotent stem cell (iPSC) clones from human dermal fibroblasts (hdF) of a MM patient who developed painful BIPN and carried two homozygous risk variants (rs2839629 and rs915854). All clones exhibited typical iPSC morphology, expressed pluripotency markers, possessed normal karyotypes, and differentiated into all three germ layers. This patient-specific iPSC line provides an <em>in vitro</em> model to investigate genetic susceptibility and molecular mechanisms underlying pain in BIPN.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103898"},"PeriodicalIF":0.7,"publicationDate":"2025-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145913215","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}
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