An induced pluripotent stem cell line (SDQLCHi062-A) from a patient carrying a mutation in the PAX2 gene
Focal segmental glomerulosclerosis 7 (FSGS7, # 616002) is a condition marked by significant proteinuria with or without features of nephrotic syndrome. Heterozygous mutations in the PAX2 gene on chromosome 10q24 can cause FSGS7. Here, we generated an induced pluripotent stem cell line SDQLCHi062-A f...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2023-12-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123002465 |
| _version_ | 1797401763065626624 |
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| author | Xiaomeng Yang Hongxia Zhang Min Gao Yuqiang Lv Wei Song Chunhong Duan Yi Liu |
| author_facet | Xiaomeng Yang Hongxia Zhang Min Gao Yuqiang Lv Wei Song Chunhong Duan Yi Liu |
| author_sort | Xiaomeng Yang |
| collection | DOAJ |
| description | Focal segmental glomerulosclerosis 7 (FSGS7, # 616002) is a condition marked by significant proteinuria with or without features of nephrotic syndrome. Heterozygous mutations in the PAX2 gene on chromosome 10q24 can cause FSGS7. Here, we generated an induced pluripotent stem cell line SDQLCHi062-A from a thirteen -years-old boy with FSGS7 caused by heterozygous mutation (c.226 G>A, p.G76S) in the PAX2 gene (OMIM * 167409). The established iPSC line was validated by pluripotency markers expression, original gene mutation and demonstrated trilineage differentiation potential in vitro. |
| first_indexed | 2024-03-09T02:14:49Z |
| format | Article |
| id | doaj.art-839c98ff4f4d472bbc47ec7dfae39951 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-03-09T02:14:49Z |
| publishDate | 2023-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-839c98ff4f4d472bbc47ec7dfae399512023-12-07T05:28:26ZengElsevierStem Cell Research1873-50612023-12-0173103260An induced pluripotent stem cell line (SDQLCHi062-A) from a patient carrying a mutation in the PAX2 geneXiaomeng Yang0Hongxia Zhang1Min Gao2Yuqiang Lv3Wei Song4Chunhong Duan5Yi Liu6Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, ChinaDepartment of Pediatrics, Children’s Hospital Affiliated to Shandong University(Jinan Children’s Hospital), Jinan 250022, ChinaPediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, ChinaPediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, ChinaTumor Minimally Invasive Comprehensive Treatment Department, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, ChinaDepartment of Pediatrics, Children’s Hospital Affiliated to Shandong University(Jinan Children’s Hospital), Jinan 250022, China; Corresponding authors at: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan 250022, China (Y. Liu).Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan 250022, China; Shandong Provincial Clinical Research Center for Children’s Health and Disease, Jinan 250022, China; Corresponding authors at: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan 250022, China (Y. Liu).Focal segmental glomerulosclerosis 7 (FSGS7, # 616002) is a condition marked by significant proteinuria with or without features of nephrotic syndrome. Heterozygous mutations in the PAX2 gene on chromosome 10q24 can cause FSGS7. Here, we generated an induced pluripotent stem cell line SDQLCHi062-A from a thirteen -years-old boy with FSGS7 caused by heterozygous mutation (c.226 G>A, p.G76S) in the PAX2 gene (OMIM * 167409). The established iPSC line was validated by pluripotency markers expression, original gene mutation and demonstrated trilineage differentiation potential in vitro.http://www.sciencedirect.com/science/article/pii/S1873506123002465 |
| spellingShingle | Xiaomeng Yang Hongxia Zhang Min Gao Yuqiang Lv Wei Song Chunhong Duan Yi Liu An induced pluripotent stem cell line (SDQLCHi062-A) from a patient carrying a mutation in the PAX2 gene Stem Cell Research |
| title | An induced pluripotent stem cell line (SDQLCHi062-A) from a patient carrying a mutation in the PAX2 gene |
| title_full | An induced pluripotent stem cell line (SDQLCHi062-A) from a patient carrying a mutation in the PAX2 gene |
| title_fullStr | An induced pluripotent stem cell line (SDQLCHi062-A) from a patient carrying a mutation in the PAX2 gene |
| title_full_unstemmed | An induced pluripotent stem cell line (SDQLCHi062-A) from a patient carrying a mutation in the PAX2 gene |
| title_short | An induced pluripotent stem cell line (SDQLCHi062-A) from a patient carrying a mutation in the PAX2 gene |
| title_sort | induced pluripotent stem cell line sdqlchi062 a from a patient carrying a mutation in the pax2 gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506123002465 |
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