Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMAHC gene
Methylmalonic acidemia and homocystinuria, cblC type is a rare autosomal recessive inheritance disease. Its clinical phenotype involves multiple systems with varying degrees of severity. The disease is caused by the mutations in the MMACHC gene located on chromosome 1p34.1. Here we report the genera...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-03-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506120300118 |
| _version_ | 1818503297059782656 |
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| author | Jingyun Guan Zilong Li Haiyan Zhang Xiaomeng Yang Yanyan Ma Yue Li Rui Dong Zhongtao Gai Yi Liu |
| author_facet | Jingyun Guan Zilong Li Haiyan Zhang Xiaomeng Yang Yanyan Ma Yue Li Rui Dong Zhongtao Gai Yi Liu |
| author_sort | Jingyun Guan |
| collection | DOAJ |
| description | Methylmalonic acidemia and homocystinuria, cblC type is a rare autosomal recessive inheritance disease. Its clinical phenotype involves multiple systems with varying degrees of severity. The disease is caused by the mutations in the MMACHC gene located on chromosome 1p34.1. Here we report the generation of an iPSC line from the PBMCs of a patient with compound heterozygous mutations in the MMACHC gene. This new iPSC line will allow a better understanding of the MMA disease. |
| first_indexed | 2024-12-10T21:22:10Z |
| format | Article |
| id | doaj.art-7f14622593ee45c38628fad74a028081 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-10T21:22:10Z |
| publishDate | 2020-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-7f14622593ee45c38628fad74a0280812022-12-22T01:33:06ZengElsevierStem Cell Research1873-50612020-03-0143Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMAHC geneJingyun Guan0Zilong Li1Haiyan Zhang2Xiaomeng Yang3Yanyan Ma4Yue Li5Rui Dong6Zhongtao Gai7Yi Liu8Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong, 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong, 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong, 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong, 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong, 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong, 250022, ChinaPediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong, 250022, ChinaCorresponding authors.; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong, 250022, ChinaCorresponding authors.; Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong, 250022, ChinaMethylmalonic acidemia and homocystinuria, cblC type is a rare autosomal recessive inheritance disease. Its clinical phenotype involves multiple systems with varying degrees of severity. The disease is caused by the mutations in the MMACHC gene located on chromosome 1p34.1. Here we report the generation of an iPSC line from the PBMCs of a patient with compound heterozygous mutations in the MMACHC gene. This new iPSC line will allow a better understanding of the MMA disease.http://www.sciencedirect.com/science/article/pii/S1873506120300118 |
| spellingShingle | Jingyun Guan Zilong Li Haiyan Zhang Xiaomeng Yang Yanyan Ma Yue Li Rui Dong Zhongtao Gai Yi Liu Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMAHC gene Stem Cell Research |
| title | Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMAHC gene |
| title_full | Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMAHC gene |
| title_fullStr | Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMAHC gene |
| title_full_unstemmed | Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMAHC gene |
| title_short | Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMAHC gene |
| title_sort | generation of a human ipsc line sdqlchi021 a from a patient with methylmalonic acidemia cblc type carrying compound heterozygous mutations in mmahc gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506120300118 |
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