Generation of two heterozygous GAA mutation-carrying human induced pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of an infant with Pompe disease
Pompe disease results from GAA mutations that leads to lysosomal glycogen accumulation and cardiac and skeletal muscle pathology. We have previously generated an infantile-onset Pompe disease patient-derived human-induced pluripotent stem cells (iPSCs) line carrying compound GAA mutations (R608X and...
| Main Authors: | , , , , , |
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| פורמט: | Article |
| שפה: | English |
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Elsevier
2022-10-01
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| סדרה: | Stem Cell Research |
| גישה מקוונת: | http://www.sciencedirect.com/science/article/pii/S1873506122002835 |
| _version_ | 1828321966195474432 |
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| author | Wenjun Huang Yafei Zhou Jie Wang Congshan Jiang Yanmin Zhang Rui Zhou |
| author_facet | Wenjun Huang Yafei Zhou Jie Wang Congshan Jiang Yanmin Zhang Rui Zhou |
| author_sort | Wenjun Huang |
| collection | DOAJ |
| description | Pompe disease results from GAA mutations that leads to lysosomal glycogen accumulation and cardiac and skeletal muscle pathology. We have previously generated an infantile-onset Pompe disease patient-derived human-induced pluripotent stem cells (iPSCs) line carrying compound GAA mutations (R608X and E888X). Using his parents’ peripheral blood mononuclear cells (PBMCs), we here generated two iPSCs lines which carry mutations of R608X E888X respectively. Both lines show typical cell morphology, high expressed pluripotent and self-renewal markers, normal karyotype, and trilineage differentiation potential. These two lines are valuable re-sources for studying the pathological mechanisms of GAA mutation-caused Pompe disease. |
| first_indexed | 2024-04-13T18:33:57Z |
| format | Article |
| id | doaj.art-32c7df4e8b5c4b068c7788c73c87e16f |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-04-13T18:33:57Z |
| publishDate | 2022-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-32c7df4e8b5c4b068c7788c73c87e16f2022-12-22T02:34:56ZengElsevierStem Cell Research1873-50612022-10-0164102934Generation of two heterozygous GAA mutation-carrying human induced pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of an infant with Pompe diseaseWenjun Huang0Yafei Zhou1Jie Wang2Congshan Jiang3Yanmin Zhang4Rui Zhou5National Regional Children’s Medical Center (Northwest), Key Laboratory of Precision Medicine to Pediatric Diseases of Shaanxi Province, Xi’an Key Laboratory of Children’s Health and Diseases, Shaanxi Institute for Pediatric Diseases, Xi’an Children’s Hospital, Affiliated Children’s Hospital of Xi’an Jiaotong University. Xi’an, ChinaNational Regional Children’s Medical Center (Northwest), Key Laboratory of Precision Medicine to Pediatric Diseases of Shaanxi Province, Xi’an Key Laboratory of Children’s Health and Diseases, Shaanxi Institute for Pediatric Diseases, Xi’an Children’s Hospital, Affiliated Children’s Hospital of Xi’an Jiaotong University. Xi’an, ChinaNational Regional Children’s Medical Center (Northwest), Key Laboratory of Precision Medicine to Pediatric Diseases of Shaanxi Province, Xi’an Key Laboratory of Children’s Health and Diseases, Shaanxi Institute for Pediatric Diseases, Xi’an Children’s Hospital, Affiliated Children’s Hospital of Xi’an Jiaotong University. Xi’an, ChinaNational Regional Children’s Medical Center (Northwest), Key Laboratory of Precision Medicine to Pediatric Diseases of Shaanxi Province, Xi’an Key Laboratory of Children’s Health and Diseases, Shaanxi Institute for Pediatric Diseases, Xi’an Children’s Hospital, Affiliated Children’s Hospital of Xi’an Jiaotong University. Xi’an, ChinaNational Regional Children’s Medical Center (Northwest), Key Laboratory of Precision Medicine to Pediatric Diseases of Shaanxi Province, Xi’an Key Laboratory of Children’s Health and Diseases, Shaanxi Institute for Pediatric Diseases, Xi’an Children’s Hospital, Affiliated Children’s Hospital of Xi’an Jiaotong University. Xi’an, China; Department of Cardiology, Xi’an Children’s Hospital, Affiliated Children’s Hospital of Xi’an Jiaotong University, ChinaNational Regional Children’s Medical Center (Northwest), Key Laboratory of Precision Medicine to Pediatric Diseases of Shaanxi Province, Xi’an Key Laboratory of Children’s Health and Diseases, Shaanxi Institute for Pediatric Diseases, Xi’an Children’s Hospital, Affiliated Children’s Hospital of Xi’an Jiaotong University. Xi’an, China; Corresponding author at National Regional Children’s Medical Center (Northwest), Key Laboratory of Precision Medicine to Pediatric Diseases of Shaanxi Province, Xi’an Key Laboratory of Children's Health and Diseases, Shaanxi Institute for Pediatric Diseases, No. 69, Xijuyuan Lane, Xi'an 710003, China.Pompe disease results from GAA mutations that leads to lysosomal glycogen accumulation and cardiac and skeletal muscle pathology. We have previously generated an infantile-onset Pompe disease patient-derived human-induced pluripotent stem cells (iPSCs) line carrying compound GAA mutations (R608X and E888X). Using his parents’ peripheral blood mononuclear cells (PBMCs), we here generated two iPSCs lines which carry mutations of R608X E888X respectively. Both lines show typical cell morphology, high expressed pluripotent and self-renewal markers, normal karyotype, and trilineage differentiation potential. These two lines are valuable re-sources for studying the pathological mechanisms of GAA mutation-caused Pompe disease.http://www.sciencedirect.com/science/article/pii/S1873506122002835 |
| spellingShingle | Wenjun Huang Yafei Zhou Jie Wang Congshan Jiang Yanmin Zhang Rui Zhou Generation of two heterozygous GAA mutation-carrying human induced pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of an infant with Pompe disease Stem Cell Research |
| title | Generation of two heterozygous GAA mutation-carrying human induced pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of an infant with Pompe disease |
| title_full | Generation of two heterozygous GAA mutation-carrying human induced pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of an infant with Pompe disease |
| title_fullStr | Generation of two heterozygous GAA mutation-carrying human induced pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of an infant with Pompe disease |
| title_full_unstemmed | Generation of two heterozygous GAA mutation-carrying human induced pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of an infant with Pompe disease |
| title_short | Generation of two heterozygous GAA mutation-carrying human induced pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of an infant with Pompe disease |
| title_sort | generation of two heterozygous gaa mutation carrying human induced pluripotent stem cell lines xachi005 a xachi006 a from parents of an infant with pompe disease |
| url | http://www.sciencedirect.com/science/article/pii/S1873506122002835 |
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