A human-induced pluripotent stem cell (iPSC) line (SMUSHi006-A) from an ALS patient carrying a mutation c.1126C > T in the FUS gene
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease. Four major genes associated with ALS—SOD1, TARDBP, FUS, and C9orf72—have been identified, with the fused in sarcoma (FUS) gene demonstrating considerable genetic heterogeneity. Our research group has previously establish...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-02-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124003027 |
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| author | Chunyan Huang Liying Qiu Wenyan Zhou Congwen Shao Xichun Wang Qiwen Zhang Weilin Chen Min Xiong Min Huang Mei Tang Liangyu Zou Xueqing Xu |
| author_facet | Chunyan Huang Liying Qiu Wenyan Zhou Congwen Shao Xichun Wang Qiwen Zhang Weilin Chen Min Xiong Min Huang Mei Tang Liangyu Zou Xueqing Xu |
| author_sort | Chunyan Huang |
| collection | DOAJ |
| description | Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease. Four major genes associated with ALS—SOD1, TARDBP, FUS, and C9orf72—have been identified, with the fused in sarcoma (FUS) gene demonstrating considerable genetic heterogeneity. Our research group has previously established an induced pluripotent stem (iPS) cell line harboring the c.1562G > A mutation in the FUS gene. The objective of this study is to create another iPS cell line featuring the pathogenic c.1126C > T mutation in the FUS gene. This research aims not only to establish a disease model for ALS linked to FUS mutations but also to pave the way for potential therapeutic interventions. |
| format | Article |
| id | doaj-art-f1fc10fcda9f4a67b33e0fa448501eed |
| institution | Kabale University |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-f1fc10fcda9f4a67b33e0fa448501eed2025-01-13T04:18:37ZengElsevierStem Cell Research1873-50612025-02-0182103604A human-induced pluripotent stem cell (iPSC) line (SMUSHi006-A) from an ALS patient carrying a mutation c.1126C > T in the FUS geneChunyan Huang0Liying Qiu1Wenyan Zhou2Congwen Shao3Xichun Wang4Qiwen Zhang5Weilin Chen6Min Xiong7Min Huang8Mei Tang9Liangyu Zou10Xueqing Xu11Precision Medicine and Prenatal Diagnosis Lab, Shenzhen Hosptial of Southern Medical University, PR ChinaShenzhen Futian District Maternity & Child Healthcare Hospital, PR ChinaPrecision Medicine and Prenatal Diagnosis Lab, Shenzhen Hosptial of Southern Medical University, PR ChinaPrecision Medicine and Prenatal Diagnosis Lab, Shenzhen Hosptial of Southern Medical University, PR ChinaDepartment of Neurology, Shenzhen People’s Hospital (First Affiliated Hospital of Southern University of Science and Technology), Second Clinical College, Jinan University, Shenzhen, PR ChinaDepartment of Neurology, Shenzhen People’s Hospital (First Affiliated Hospital of Southern University of Science and Technology), Second Clinical College, Jinan University, Shenzhen, PR ChinaPrecision Medicine and Prenatal Diagnosis Lab, Shenzhen Hosptial of Southern Medical University, PR ChinaPrecision Medicine and Prenatal Diagnosis Lab, Shenzhen Hosptial of Southern Medical University, PR ChinaPrecision Medicine and Prenatal Diagnosis Lab, Shenzhen Hosptial of Southern Medical University, PR ChinaPrecision Medicine and Prenatal Diagnosis Lab, Shenzhen Hosptial of Southern Medical University, PR ChinaDepartment of Neurology, Shenzhen People’s Hospital (First Affiliated Hospital of Southern University of Science and Technology), Second Clinical College, Jinan University, Shenzhen, PR China; Corresponding author at: Precision Medicine and Prenatal Diagnosis Lab, Shenzhen Hosptial of Southern Medical University, PR China.Precision Medicine and Prenatal Diagnosis Lab, Shenzhen Hosptial of Southern Medical University, PR China; Corresponding author at: Precision Medicine and Prenatal Diagnosis Lab, Shenzhen Hosptial of Southern Medical University, PR China.Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease. Four major genes associated with ALS—SOD1, TARDBP, FUS, and C9orf72—have been identified, with the fused in sarcoma (FUS) gene demonstrating considerable genetic heterogeneity. Our research group has previously established an induced pluripotent stem (iPS) cell line harboring the c.1562G > A mutation in the FUS gene. The objective of this study is to create another iPS cell line featuring the pathogenic c.1126C > T mutation in the FUS gene. This research aims not only to establish a disease model for ALS linked to FUS mutations but also to pave the way for potential therapeutic interventions.http://www.sciencedirect.com/science/article/pii/S1873506124003027 |
| spellingShingle | Chunyan Huang Liying Qiu Wenyan Zhou Congwen Shao Xichun Wang Qiwen Zhang Weilin Chen Min Xiong Min Huang Mei Tang Liangyu Zou Xueqing Xu A human-induced pluripotent stem cell (iPSC) line (SMUSHi006-A) from an ALS patient carrying a mutation c.1126C > T in the FUS gene Stem Cell Research |
| title | A human-induced pluripotent stem cell (iPSC) line (SMUSHi006-A) from an ALS patient carrying a mutation c.1126C > T in the FUS gene |
| title_full | A human-induced pluripotent stem cell (iPSC) line (SMUSHi006-A) from an ALS patient carrying a mutation c.1126C > T in the FUS gene |
| title_fullStr | A human-induced pluripotent stem cell (iPSC) line (SMUSHi006-A) from an ALS patient carrying a mutation c.1126C > T in the FUS gene |
| title_full_unstemmed | A human-induced pluripotent stem cell (iPSC) line (SMUSHi006-A) from an ALS patient carrying a mutation c.1126C > T in the FUS gene |
| title_short | A human-induced pluripotent stem cell (iPSC) line (SMUSHi006-A) from an ALS patient carrying a mutation c.1126C > T in the FUS gene |
| title_sort | human induced pluripotent stem cell ipsc line smushi006 a from an als patient carrying a mutation c 1126c t in the fus gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124003027 |
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