An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene
NGLY1 deficiency is a rare inherited disorder caused by mutations in the NGLY1 gene encoding N-glycanase 1 that is a hydrolase for N-linked glycosylated proteins. An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a 16-year-old patient with homozygous mutation...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2019-08-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506119301266 |
| _version_ | 1831669021887430656 |
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| author | Shu Yang Yu-Shan Cheng Rong Li Manisha Pradhan Junjie Hong Jeanette Beers Jizhong Zou Chengyu Liu Matt Might Steven Rodems Wei Zheng |
| author_facet | Shu Yang Yu-Shan Cheng Rong Li Manisha Pradhan Junjie Hong Jeanette Beers Jizhong Zou Chengyu Liu Matt Might Steven Rodems Wei Zheng |
| author_sort | Shu Yang |
| collection | DOAJ |
| description | NGLY1 deficiency is a rare inherited disorder caused by mutations in the NGLY1 gene encoding N-glycanase 1 that is a hydrolase for N-linked glycosylated proteins. An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a 16-year-old patient with homozygous mutation of p.R401X (c.1201 A>T) in the NGLY1 gene. Our iPSC model offers a useful resource to study the disease pathophysiology and to develop therapeutics for treatment of NGLY1 patients. |
| first_indexed | 2024-12-19T22:51:41Z |
| format | Article |
| id | doaj.art-da2fb85e6390486ba6c6822a7a0e1d40 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-19T22:51:41Z |
| publishDate | 2019-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-da2fb85e6390486ba6c6822a7a0e1d402022-12-21T20:02:47ZengElsevierStem Cell Research1873-50612019-08-0139An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 geneShu Yang0Yu-Shan Cheng1Rong Li2Manisha Pradhan3Junjie Hong4Jeanette Beers5Jizhong Zou6Chengyu Liu7Matt Might8Steven Rodems9Wei Zheng10National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USANational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USANational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USANational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USANational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USAiPSC core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USAiPSC core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USATransgenic Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USAUniversity of Alabama at Birmingham, Birmingham, AL, USARetrophin, Inc., San Diego, CA, USANational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA; Corresponding author at: National Center for Advancing Translational Sciences, National Institutes of Health, 9800 Medical Center Drive, MSC: 3375, Bethesda, MD 20892, USA.NGLY1 deficiency is a rare inherited disorder caused by mutations in the NGLY1 gene encoding N-glycanase 1 that is a hydrolase for N-linked glycosylated proteins. An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a 16-year-old patient with homozygous mutation of p.R401X (c.1201 A>T) in the NGLY1 gene. Our iPSC model offers a useful resource to study the disease pathophysiology and to develop therapeutics for treatment of NGLY1 patients.http://www.sciencedirect.com/science/article/pii/S1873506119301266 |
| spellingShingle | Shu Yang Yu-Shan Cheng Rong Li Manisha Pradhan Junjie Hong Jeanette Beers Jizhong Zou Chengyu Liu Matt Might Steven Rodems Wei Zheng An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene Stem Cell Research |
| title | An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene |
| title_full | An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene |
| title_fullStr | An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene |
| title_full_unstemmed | An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene |
| title_short | An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene |
| title_sort | induced pluripotent stem cell line trndi010 c from a patient carrying a homozygous p r401x mutation in the ngly1 gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506119301266 |
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