Pub Date : 2025-10-22DOI: 10.1016/j.scr.2025.103858
Bailey E. Masser-Mitchell , Hayley S. McLoughlin
Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare neurodegenerative disorder caused by heterozygous deletions of ITPR1, leading to haploinsufficiency of the encoded endoplasmic reticulum membrane calcium channel. Patients present with progressive gait disturbances, abnormal eye movements, difficulties with speech and swallowing, and tremors associated with atrophy of the cerebellum. Using CRISPR/Cas9 technology, we generated ITPR1+/− and isogenic control induced pluripotent stem cell (iPSC) lines from PGP1 iPSCs for SCA15/16 model development. The clones were genotyped, karyotyped, and assessed for pluripotency and differentiation potential.
{"title":"Generation of an ITPR1+/− and isogenic control induced pluripotent stem cell line for SCA15/16 model development","authors":"Bailey E. Masser-Mitchell , Hayley S. McLoughlin","doi":"10.1016/j.scr.2025.103858","DOIUrl":"10.1016/j.scr.2025.103858","url":null,"abstract":"<div><div>Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare neurodegenerative disorder caused by heterozygous deletions of <em>ITPR1</em>, leading to haploinsufficiency of the encoded endoplasmic reticulum membrane calcium channel. Patients present with progressive gait disturbances, abnormal eye movements, difficulties with speech and swallowing, and tremors associated with atrophy of the cerebellum. Using CRISPR/Cas9 technology, we generated <em>ITPR1</em><sup>+/−</sup> and isogenic control induced pluripotent stem cell (iPSC) lines from PGP1 iPSCs for SCA15/16 model development. The clones were genotyped, karyotyped, and assessed for pluripotency and differentiation potential.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103858"},"PeriodicalIF":0.7,"publicationDate":"2025-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145446070","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 : 2025-10-21DOI: 10.1016/j.scr.2025.103852
Naresh Rajendran , Ajeet Singh , Wendy Runyon , Sam Hu , Ritu Kumar , Rinki Ratnapriya , Karl Csaky , Srinivasa R. Sripathi
Age-related macular degeneration (AMD) is a complex disease influenced by genetic and environmental factors. Variants in the complement pathway, especially in the CFH gene, increase AMD risk, yet disease severity can differ among individuals with identical high-risk genotypes. We generated induced pluripotent stem cell (iPSC) lines from siblings carrying identical high-risk complement variants but displaying discordant AMD phenotypes. These lines provide a unique platform to study epigenetic, transcriptomic, and environmental factors driving AMD heterogeneity. By comparing differentiated retinal cells, we aim to reveal mechanisms behind variable disease susceptibility and inform personalized therapies for AMD.
{"title":"Derivation of pluripotent stem cell lines (RFSCi005-A, RFSCi006-A) from siblings harboring identical high-risk complement variants with discordant age-related macular degeneration","authors":"Naresh Rajendran , Ajeet Singh , Wendy Runyon , Sam Hu , Ritu Kumar , Rinki Ratnapriya , Karl Csaky , Srinivasa R. Sripathi","doi":"10.1016/j.scr.2025.103852","DOIUrl":"10.1016/j.scr.2025.103852","url":null,"abstract":"<div><div>Age-related macular degeneration (AMD) is a complex disease influenced by genetic and environmental factors. Variants in the complement pathway, especially in the CFH gene, increase AMD risk, yet disease severity can differ among individuals with identical high-risk genotypes. We generated induced pluripotent stem cell (iPSC) lines from siblings carrying identical high-risk complement variants but displaying discordant AMD phenotypes. These lines provide a unique platform to study epigenetic, transcriptomic, and environmental factors driving AMD heterogeneity. By comparing differentiated retinal cells, we aim to reveal mechanisms behind variable disease susceptibility and inform personalized therapies for AMD.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103852"},"PeriodicalIF":0.7,"publicationDate":"2025-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145356084","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 : 2025-10-21DOI: 10.1016/j.scr.2025.103859
Sai Wei , Ruiting Ma , Ting Zhang , Luan Wen
Large genomic deletions are increasingly recognized as contributors to human disease. Here, we describe a CRISPR/Cas9-based protocol to induce targeted large-fragment deletions in human pluripotent stem cells (hPSCs). Two sgRNAs flanking the target region were designed, synthesized, and co-delivered with Cas9 protein into single-cell hPSCs via electroporation. Deletions were identified using junction PCR. Successfully edited cell pools were expanded as single-cell colonies and assessed for genomic deletion, stem cell identity, karyotype integrity, and tri-lineage differentiation capacity. This approach provides a robust method for modeling genomic deletions in hPSCs for disease research and functional genomics.
{"title":"Targeted large-fragment genomic deletion in human pluripotent stem cells (hPSCs) via CRISPR/Cas9","authors":"Sai Wei , Ruiting Ma , Ting Zhang , Luan Wen","doi":"10.1016/j.scr.2025.103859","DOIUrl":"10.1016/j.scr.2025.103859","url":null,"abstract":"<div><div>Large genomic deletions are increasingly recognized as contributors to human disease. Here, we describe a CRISPR/Cas9-based protocol to induce targeted large-fragment deletions in human pluripotent stem cells (hPSCs). Two sgRNAs flanking the target region were designed, synthesized, and co-delivered with Cas9 protein into single-cell hPSCs via electroporation. Deletions were identified using junction PCR. Successfully edited cell pools were expanded as single-cell colonies and assessed for genomic deletion, stem cell identity, karyotype integrity, and tri-lineage differentiation capacity. This approach provides a robust method for modeling genomic deletions in hPSCs for disease research and functional genomics.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103859"},"PeriodicalIF":0.7,"publicationDate":"2025-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145410195","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 : 2025-10-21DOI: 10.1016/j.scr.2025.103860
Tingting Yin , Ping Dong , XiaoJuan Shi , Zhelan Huang , Xiaohong Guo , Wenhao Zhou , Huijun Wang
Neurodegeneration with brain iron accumulation-5 (NBIA5) is caused by de novo heterozygous or hemizygous mutation in the WDR45 gene on chromosome Xp11. Peripheral mononuclear blood cells from these patients carrying WDR45 variants (c.888G > A and c.700C > T) were obtained to generate two human induced pluripotent stem cell (iPSC) lines. The two iPSC lines presented typical pluripotent cell morphology and displayed normal karyotypes, were characterized for markers for the identification of undifferentiated hPSCs, and differentiated into three germ layers.
{"title":"Generation of two induced pluripotent stem cell lines (FDCHi011-A and FDCHi016-A) from different patients with NBIA5 syndrome carrying WDR45 m.700C > T and m.888G > A mutation","authors":"Tingting Yin , Ping Dong , XiaoJuan Shi , Zhelan Huang , Xiaohong Guo , Wenhao Zhou , Huijun Wang","doi":"10.1016/j.scr.2025.103860","DOIUrl":"10.1016/j.scr.2025.103860","url":null,"abstract":"<div><div>Neurodegeneration with brain iron accumulation-5 (NBIA5) is caused by <em>de novo</em> heterozygous or hemizygous mutation in the WDR45 gene on chromosome Xp11. Peripheral mononuclear blood cells from these patients carrying WDR45 variants (c.888G > A and c.700C > T) were obtained to generate two human induced pluripotent stem cell (iPSC) lines. The two iPSC lines presented typical pluripotent cell morphology and displayed normal karyotypes, were characterized for markers for the identification of undifferentiated hPSCs, and differentiated into three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103860"},"PeriodicalIF":0.7,"publicationDate":"2025-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145364217","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 : 2025-10-17DOI: 10.1016/j.scr.2025.103856
Ryo Tomooka , Hideyuki Okano , Jun Kohyama
ATRX is a chromatin-remodelling protein associated with neurodevelopmental disorders and gliomas, forming distinct nuclear foci associated with chromatin organization and phase-separated nuclear compartments. To visualize ATRX dynamics in live cells, we generated a human iPS cell (hiPSC) line with EGFP knocked in at the ATRX N-terminus using CRISPR/Cas12a-mediated genome editing. The modified hiPSCs retained pluripotency, normal karyotype, and trilineage differentiation potential. EGFP-ATRX localized to discrete nuclear foci, consistent with the phase-separated condensates described for ATRX, enabling real-time visualization of its chromatin association. This reporter line offers a valuable tool for studying ATRX function during differentiation and chromatin architecture development.
{"title":"Generation of a human iPSC line with EGFP knock-in at the ATRX locus for visualization of chromatin remodeler dynamics and nuclear condensate formation","authors":"Ryo Tomooka , Hideyuki Okano , Jun Kohyama","doi":"10.1016/j.scr.2025.103856","DOIUrl":"10.1016/j.scr.2025.103856","url":null,"abstract":"<div><div>ATRX is a chromatin-remodelling protein associated with neurodevelopmental disorders and gliomas, forming distinct nuclear foci associated with chromatin organization and phase-separated nuclear compartments. To visualize ATRX dynamics in live cells, we generated a human iPS cell (hiPSC) line with EGFP knocked in at the ATRX N-terminus using CRISPR/Cas12a-mediated genome editing. The modified hiPSCs retained pluripotency, normal karyotype, and trilineage differentiation potential. EGFP-ATRX localized to discrete nuclear foci, consistent with the phase-separated condensates described for ATRX, enabling real-time visualization of its chromatin association. This reporter line offers a valuable tool for studying ATRX function during differentiation and chromatin architecture development.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103856"},"PeriodicalIF":0.7,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145422761","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 : 2025-10-17DOI: 10.1016/j.scr.2025.103857
Sibylle Marteau , Laetitia Duboscq-Bidot , Takanori Aizawa , Matthieu Hamlin , Eric Villard , Pascale Guicheney , Vincent Fontaine
FAM189A2/ENTREP1 encodes a transmembrane protein, EREP1, ubiquitously expressed, with higher levels in thyroid gland, skeletal muscle, heart and glial cells, suggesting tissue-specific roles. It is regulated in various cancers and genetic studies suggested that it could be associated with cardiac and cardiometabolic diseases. EREP1 was reported to activate ITCH, an E3 ubiquitin ligase, involved in endosomal dynamics and protein trafficking. We generated by CRISPR/Cas9 technology a human induced pluripotent stem cells (hiPSCs) line carrying two compound heterozygous deletions leading to gene invalidation, with the aim of further exploring the poorly understood function of this protein.
{"title":"Generation of a FAM189A2/ENTREP1 knockout human induced pluripotent stem cell line using CRISPR/Cas9 technology","authors":"Sibylle Marteau , Laetitia Duboscq-Bidot , Takanori Aizawa , Matthieu Hamlin , Eric Villard , Pascale Guicheney , Vincent Fontaine","doi":"10.1016/j.scr.2025.103857","DOIUrl":"10.1016/j.scr.2025.103857","url":null,"abstract":"<div><div><em>FAM189A2/ENTREP1</em> encodes a transmembrane protein, EREP1, ubiquitously expressed, with higher levels in thyroid gland, skeletal muscle, heart and glial cells, suggesting tissue-specific roles. It is regulated in various cancers and genetic studies suggested that it could be associated with cardiac and cardiometabolic diseases. EREP1 was reported to activate ITCH, an E3 ubiquitin ligase, involved in endosomal dynamics and protein trafficking. We generated by CRISPR/Cas9 technology a human induced pluripotent stem cells (hiPSCs) line carrying two compound heterozygous deletions leading to gene invalidation, with the aim of further exploring the poorly understood function of this protein.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103857"},"PeriodicalIF":0.7,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145364216","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}
IBA57 (Iron-Sulphur Cluster Assembly Factor IBA57) is a gene that encodes a protein iron-sulfur clusters which is crucial for mitochondrial maturation, mutation in these genes cause mitochondrial dysfunction. Clinical indication varies from neonatal lethality to childhood-onset spastic paraparesis resulting from mitochondrial dysfunctions. We reprogrammed fibroblasts from a patient carrying an IBA57 variant (c.338A>G) into induced pluripotent stem cells (iPSCs). The generated iPSCs showed a normal karyotype, positive expression for markers of undifferentiated hPSCs and were able to differentiate into three germ layers in vitro. The established NIMHi020-A iPSCs can be utilized for modelling neuromuscular disorders.
{"title":"Establishment of human induced pluripotent stem cell line, NIMHi020-A from fibroblasts of a patient with IBA57 variant (p.Tyr113Cys)","authors":"Maheshwari Baduvandra Chettiyappa , Bevinahalli Nanjegowda Nandeesh , Madhura Milind Nimonkar , Sekar Deepha , Siddharth Kapahtia , Meenakshi Sharma , Periyasamy Govindaraj , Bhupesh Mehta , Yogananda S. Markandeya","doi":"10.1016/j.scr.2025.103853","DOIUrl":"10.1016/j.scr.2025.103853","url":null,"abstract":"<div><div><em>IBA57</em> (Iron-Sulphur Cluster Assembly Factor IBA57) is a gene that encodes a protein iron-sulfur clusters which is crucial for mitochondrial maturation, mutation in these genes cause mitochondrial dysfunction. Clinical indication varies from neonatal lethality to childhood-onset spastic paraparesis resulting from mitochondrial dysfunctions. We reprogrammed fibroblasts from a patient carrying an <em>IBA57</em> variant (c.338A>G) into induced pluripotent stem cells (iPSCs). The generated iPSCs showed a normal karyotype, positive expression for markers of undifferentiated hPSCs and were able to differentiate into three germ layers <em>in vitro.</em> The established NIMHi020-A iPSCs can be utilized for modelling neuromuscular disorders.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103853"},"PeriodicalIF":0.7,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145318626","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 : 2025-10-13DOI: 10.1016/j.scr.2025.103854
Xuan Xu , Bing Xue , Dingqi Zhang , Yupeng Wang , Bonan Chen , Zhenghua Shan , Wenzhuo Zhao , Tianxiao Qiu , Jing Sun , Shengying Qin
Schizophrenia, a chronic mental health condition, is characterized by abnormalities in perception, emotions and behavior. We successfully generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells (PBMCs) of a patient with schizophrenia and neurodevelopmental delay who responded well to olanzapine therapy. The iPSCs exhibited a normal karyotype, expressed markers of undifferentiated human pluripotent stem cells (hPSCs), and differentiated into the three germ layers in vivo.
{"title":"Generation of induced pluripotent stem cell line UJSi005-A from developmentally delayed schizophrenic patients","authors":"Xuan Xu , Bing Xue , Dingqi Zhang , Yupeng Wang , Bonan Chen , Zhenghua Shan , Wenzhuo Zhao , Tianxiao Qiu , Jing Sun , Shengying Qin","doi":"10.1016/j.scr.2025.103854","DOIUrl":"10.1016/j.scr.2025.103854","url":null,"abstract":"<div><div>Schizophrenia, a chronic mental health condition, is characterized by abnormalities in perception, emotions and behavior. We successfully generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells (PBMCs) of a patient with schizophrenia and neurodevelopmental delay who responded well to olanzapine therapy. The iPSCs exhibited a normal karyotype, expressed markers of undifferentiated human pluripotent stem cells (hPSCs), and differentiated into the three germ layers <em>in vivo</em>.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103854"},"PeriodicalIF":0.7,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145333545","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 : 2025-10-09DOI: 10.1016/j.scr.2025.103850
Chikage Noishiki , Amit Manhas , Shaunak S. Adkar , Dipti Tripathi , David Wu , Safa Sadat , Lu Liu , Karim Sallam , Nicholas J. Leeper , Eri Fukaya , Nazish Sayed
Chronic venous disease is among the most common vascular diseases globally. Varicose veins (VV), characterized by permanent dilation, elongation, and tortuosity of superficial veins, is a manifestation of chronic venous disease. Here, we generated an induced pluripotent stem cell (iPSC) line from PBMCs obtained from a patient with VV. The iPSC line exhibited typical morphology, maintained undifferentiated hPSC state markers, demonstrated a normal karyotype, and successfully differentiated into all three germ layers. This iPSC line provides a valuable platform to model VV pathogenesis and investigate the molecular mechanisms underlying venous dysfunction.
{"title":"Generation of an induced pluripotent stem cell line from a patient with Varicose veins","authors":"Chikage Noishiki , Amit Manhas , Shaunak S. Adkar , Dipti Tripathi , David Wu , Safa Sadat , Lu Liu , Karim Sallam , Nicholas J. Leeper , Eri Fukaya , Nazish Sayed","doi":"10.1016/j.scr.2025.103850","DOIUrl":"10.1016/j.scr.2025.103850","url":null,"abstract":"<div><div>Chronic venous disease is among the most common vascular diseases globally. Varicose veins (VV), characterized by permanent dilation, elongation, and tortuosity of superficial veins, is a manifestation of chronic venous disease. Here, we generated an induced pluripotent stem cell (iPSC) line from PBMCs obtained from a patient with VV. The iPSC line exhibited typical morphology, maintained undifferentiated hPSC state markers, demonstrated a normal karyotype, and successfully differentiated into all three germ layers. This iPSC line provides a valuable platform to model VV pathogenesis and investigate the molecular mechanisms underlying venous dysfunction.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103850"},"PeriodicalIF":0.7,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145269971","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 : 2025-10-09DOI: 10.1016/j.scr.2025.103851
Holly N. Cukier , Brooke A. DeRosa , Lauren E. Coombs , Eugene Tang , Denise R. Leyva , Ainnara R. Lazzaro , Esther Gu , Derek M. Dykxhoorn , Jonathan L. Haines , Margaret A. Pericak-Vance , Yeunjoo E. Song , William S. Bush , Anthony J. Griswold
Mosaic loss of the Y chromosome (LOY) is a somatic phenomenon that occurs in males as they age (Jacobs, 1963, Forsberg, 2017, Danielsson, 2020) and is associated with an elevated risk of developing numerous diseases, including Alzheimer’s Disease (AD) (Dumanski, 2016, Palmer, et al., 2022, Garcia-Gonzalez, 2023), cancer (Holmes, 1985, Loftfield, 2018), diabetes (Loftfield, 2018), age related macular degeneration (Grassmann, 2019), and autoimmune disease (Persani, 2012, Lleo, 2013). The induced pluripotent cell lines (iPSCs) UMi050-A and UMi050-B were derived from a Hispanic male with loss of the Y chromosome in his blood and diagnosed with AD. This isogenic pair of lines with and without a Y chromosome is a unique resource to delve into the mechanism of LOY and its relationship to AD risk.
{"title":"Generation of two isogenic induced pluripotent stem cell lines derived from a Hispanic individual with Alzheimer’s Disease and mosaic for loss of the Y chromosome","authors":"Holly N. Cukier , Brooke A. DeRosa , Lauren E. Coombs , Eugene Tang , Denise R. Leyva , Ainnara R. Lazzaro , Esther Gu , Derek M. Dykxhoorn , Jonathan L. Haines , Margaret A. Pericak-Vance , Yeunjoo E. Song , William S. Bush , Anthony J. Griswold","doi":"10.1016/j.scr.2025.103851","DOIUrl":"10.1016/j.scr.2025.103851","url":null,"abstract":"<div><div>Mosaic loss of the Y chromosome (LOY) is a somatic phenomenon that occurs in males as they age (<span><span>Jacobs, 1963</span></span>, <span><span>Forsberg, 2017</span></span>, <span><span>Danielsson, 2020</span></span>) and is associated with an elevated risk of developing numerous diseases, including Alzheimer’s Disease (AD) (<span><span>Dumanski, 2016</span></span>, <span><span>Palmer, et al., 2022</span></span>, <span><span>Garcia-Gonzalez, 2023</span></span>), cancer (<span><span>Holmes, 1985</span></span>, <span><span>Loftfield, 2018</span></span>), diabetes (<span><span>Loftfield, 2018</span></span>), age related macular degeneration (<span><span>Grassmann, 2019</span></span>), and autoimmune disease (<span><span>Persani, 2012</span></span>, <span><span>Lleo, 2013</span></span>). The induced pluripotent cell lines (iPSCs) UMi050-A and UMi050-B were derived from a Hispanic male with loss of the Y chromosome in his blood and diagnosed with AD. This isogenic pair of lines with and without a Y chromosome is a unique resource to delve into the mechanism of LOY and its relationship to AD risk.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103851"},"PeriodicalIF":0.7,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145293613","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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