Pub Date : 2026-01-26DOI: 10.1016/j.scr.2026.103917
Xingsheng Peng , Yuan Li , Meiling Zhang , Huijun Wang , Wenhao Zhou , Man Xiong
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 de novo heterozygous c.1042G>A (p.G348R) mutation in DYRK1A. 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.
DYRK1A综合征是一种由DYRK1A单倍功能不全引起的神经发育障碍。我们从一名携带DYRK1A新发杂合c.1042G> a （p.G348R）突变的4岁女性患者身上获得了人诱导多能干细胞（iPSC）系FDIBSi002-A。外周血单个核细胞（PBMCs）采用非整合外遗载体重编程。所建立的iPSC系核型正常（46，XX），表达多能性标记，具有三龄分化潜力。这种患者特异性细胞系为研究dyrk1a相关智力残疾的致病机制和药物筛选提供了有价值的模型。
{"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":"2026-01-26","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}
Pub Date : 2026-01-13DOI: 10.1016/j.scr.2026.103911
Shuai Sun , Xiaochun Yang , Yang Zhou , Rebecca Yu , Parker Walther , Jeffrey Teuteberg , Victoria Parikh , Joseph C. Wu
Dilated cardiomyopathy (DCM) is a myocardial disease, characterized by ventricular enlargement and reduced contractile ability, which frequently leads to heart failure and arrhythmias. This condition is related to loss-of-function mutations in the RNA-binding motif protein 20 (RBM20), which disrupts target gene splicing. Two induced pluripotent stem cell (iPSC) lines, each harboring a single heterozygous RBM20 mutation, were generated from DCM patients. Both cell lines retain normal karyotypes and exhibit robust undifferentiated iPSC state markers. They have the capability to differentiate into derivatives of three germ layers, which provides a significant in vitro tool for RBM20-related DCM and a valuable platform for therapeutic development.
{"title":"Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients carrying RBM20 mutations","authors":"Shuai Sun , Xiaochun Yang , Yang Zhou , Rebecca Yu , Parker Walther , Jeffrey Teuteberg , Victoria Parikh , Joseph C. Wu","doi":"10.1016/j.scr.2026.103911","DOIUrl":"10.1016/j.scr.2026.103911","url":null,"abstract":"<div><div>Dilated cardiomyopathy (DCM) is a myocardial disease, characterized by ventricular enlargement and reduced contractile ability, which frequently leads to heart failure and arrhythmias. This condition is related to loss-of-function mutations in the RNA-binding motif protein 20 (<em>RBM20</em>), which disrupts target gene splicing. Two induced pluripotent stem cell (iPSC) lines, each harboring a single heterozygous <em>RBM20</em> mutation, were generated from DCM patients. Both cell lines retain normal karyotypes and exhibit robust undifferentiated iPSC state markers. They have the capability to differentiate into derivatives of three germ layers, which provides a significant in vitro tool for <em>RBM20</em>-related DCM and a valuable platform for therapeutic development.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103911"},"PeriodicalIF":0.7,"publicationDate":"2026-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146030951","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 : 2026-01-13DOI: 10.1016/j.scr.2026.103912
Jin Zhao , Rong Hu , Kuan Chen Lai , Yaling Liu , Gordon G. Carmichael , Donna M. Martin , Laijun Lai
CHARGE syndrome is a rare, complex congenital disorder affecting multiple organ systems, with CHD7 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 de novo CHD7 pathogenic variant, c.1366C > T (p.Q456*). This iPSC line provides a valuable model for investigating the pathogenesis of CHARGE-associated T cell immunodeficiency.
CHARGE综合征是一种罕见的影响多器官系统的复杂先天性疾病，CHD7被确定为其主要致病基因。患有CHARGE综合征的个体可表现出T细胞免疫缺陷，这损害了适应性免疫并增加了对感染的易感性。T细胞免疫缺陷综合征在很大程度上归因于胸腺功能低下/发育不全。在这项研究中，我们从患有CHARGE综合征和胸腺疾患的21月龄女性的血液中获得了诱导多能干细胞（iPSC）系，该女性携带一种新的CHD7致病变异，c.1366C > T （p.Q456*）。该iPSC细胞系为研究电荷相关T细胞免疫缺陷的发病机制提供了一个有价值的模型。
{"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":"2026-01-13","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}
Occult macular dystrophy (OMD) is a hereditary macular disease characterized by no visible macular abnormalities. It is an autosomal dominant disease associated with retinitis pigmentosa 1 like 1 (RP1L1) gene mutation. c.133C > T mutation in the RP1L1 gene is the primary cause of severe visual impairment in OMD patients. The induced pluripotent stem cell (iPSC) line was generated using the integration-free Sendai virus method from peripheral blood mononuclear cells (PBMCs) of a vision-impaired patient harboring heterozygous RP1L1 c.133C > T mutation. This cell line may serve as a cellular model for studying the pathogenic mechanisms of OMD caused by RP1L1 mutation.
{"title":"Generation of an induced pluripotent stem cell (iPSC) line (IPSCi001-A), from a 40-year-old female patient with occult macular dystrophy carrying the c.133C > T mutation in the RP1L1 gene","authors":"An-Guor Wang , Chun-Ying Huang , Hui-Chen Cheng , Wei-Che Hung , Yen-Fu Cheng","doi":"10.1016/j.scr.2025.103902","DOIUrl":"10.1016/j.scr.2025.103902","url":null,"abstract":"<div><div>Occult macular dystrophy (OMD) is a hereditary macular disease characterized by no visible macular abnormalities. It is an autosomal dominant disease associated with retinitis pigmentosa 1 like 1 (RP1L1) gene mutation. c.133C > T mutation in the RP1L1 gene is the primary cause of severe visual impairment in OMD patients. The induced pluripotent stem cell (iPSC) line was generated using the integration-free Sendai virus method from peripheral blood mononuclear cells (PBMCs) of a vision-impaired patient harboring heterozygous RP1L1 c.133C > T mutation. This cell line may serve as a cellular model for studying the pathogenic mechanisms of OMD caused by RP1L1 mutation.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103902"},"PeriodicalIF":0.7,"publicationDate":"2026-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145980563","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 : 2026-01-09DOI: 10.1016/j.scr.2026.103907
Shekhar Patil , Arghakusum Das , Maneesha S. Inamdar
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.
{"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":"2026-01-09","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}
Pub Date : 2026-01-08DOI: 10.1016/j.scr.2026.103909
Inigo Yoldi Bergua , Ibrahim Boussaad , Elizabet Petkovski , Zied Landoulsi , NCER-PD Consortium , DEEPEN-iRBD Consortium , Rejko Krüger , Giuseppe Arena
Parkinson’s disease (PD) patients carrying variants in GBA1 exhibit distinct phenotypic characteristics of disease, including earlier age at onset, faster motor decline and higher frequency of cognitive decline. As carriers of GBA1 define a relevant PD subgroup and in order to prepare for future precision medicine approaches to treat GBA1-mediated PD, we generated 5 induced pluripotent stem cell (iPSC) lines from primary skin fibroblasts of PD patients, each carrying a heterozygous variant in GBA1 (p.L483P; p.L483P; p.G241R; p.N409S; p.N409S). iPSCs pluripotency was confirmed by qPCR and immunocytochemistry, and their ability to differentiate into the 3 germ layers was validated.
{"title":"Generation and characterization of 5 induced pluripotent stem cell (iPSC) lines from Parkinson’s disease patients carrying GBA1 variants","authors":"Inigo Yoldi Bergua , Ibrahim Boussaad , Elizabet Petkovski , Zied Landoulsi , NCER-PD Consortium , DEEPEN-iRBD Consortium , Rejko Krüger , Giuseppe Arena","doi":"10.1016/j.scr.2026.103909","DOIUrl":"10.1016/j.scr.2026.103909","url":null,"abstract":"<div><div>Parkinson’s disease (PD) patients carrying variants in <em>GBA1</em> exhibit distinct phenotypic characteristics of disease, including earlier age at onset, faster motor decline and higher frequency of cognitive decline. As carriers of <em>GBA1</em> define a relevant PD subgroup and in order to prepare for future precision medicine approaches to treat <em>GBA1</em>-mediated PD, we generated 5 induced pluripotent stem cell (iPSC) lines from primary skin fibroblasts of PD patients, each carrying a heterozygous variant in <em>GBA1</em> (p.L483P; p.L483P; p.G241R; p.N409S; p.N409S). iPSCs pluripotency was confirmed by qPCR and immunocytochemistry, and their ability to differentiate into the 3 germ layers was validated.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103909"},"PeriodicalIF":0.7,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145941353","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 : 2026-01-08DOI: 10.1016/j.scr.2026.103910
Tao Dong , Yan Zhao , Hai-feng Jin , Hong-ming Pan , Li-ling Yue , Yan Lin , Lei Shen
The GPD1L gene is located on 3p22.3. It encodes the glycerol phosphate dehydrogenase 1-like protein with homology to glycerol phosphate dehydrogenase (GPD1L), but the function of this enzyme is unclear. Mutations in GPD1L have been associated with BrS (Brugada syndrome) and SIDS (sudden infant death syndrome) and reduce Na+ inward current through an unknown mechanism in human cardiomyocytes. Here, a GPD1L knockout human embryonic stem cell line was generated using CRISPR/Cas9 system. The GPD1L knockout human embryonic stem cell maintains the pluripotency, differentiation into three germ layers, forming normal EBs.
{"title":"The establishment of a GPD1L knockout human embryonic stem cell line (WAe009-A-80) using the CRISPR/Cas9 system","authors":"Tao Dong , Yan Zhao , Hai-feng Jin , Hong-ming Pan , Li-ling Yue , Yan Lin , Lei Shen","doi":"10.1016/j.scr.2026.103910","DOIUrl":"10.1016/j.scr.2026.103910","url":null,"abstract":"<div><div>The <em>GPD1L</em> gene is located on 3p22.3. It encodes the glycerol phosphate dehydrogenase 1-like protein with homology to glycerol phosphate dehydrogenase (GPD1L), but the function of this enzyme is unclear. Mutations in <em>GPD1L</em> have been associated with BrS (Brugada syndrome) and SIDS (sudden infant death syndrome) and reduce Na<sup>+</sup> inward current through an unknown mechanism in human cardiomyocytes. Here, a <em>GPD1L</em> knockout human embryonic stem cell line was generated using CRISPR/Cas9 system. The <em>GPD1L</em> knockout human embryonic stem cell maintains the pluripotency, differentiation into three germ layers, forming normal EBs.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"91 ","pages":"Article 103910"},"PeriodicalIF":0.7,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145980499","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 : 2026-01-07DOI: 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}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号