Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9
NGLY1 deficiency is a rare recessive genetic disease caused by mutations in the NGLY1 gene which codes for N-glycanase 1 (NGLY1). Here, we report the generation of two gene corrected iPSC lines using a patient-derived iPSC line (NCATS-CL6103) that carried a homozygous p.R401X mutation in the NGLY1 g...
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Elsevier
2021-10-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506121004013 |
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doaj-ca73fb73f49942c1a28705cccce7f3392021-10-07T04:24:32ZengElsevierStem Cell Research1873-50612021-10-0156102554Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9Ivan Pavlinov0Atena Farkhondeh1Shu Yang2Miao Xu3Yu-Shan Cheng4Jeanette Beers5Jizhong Zou6Chengyu Liu7Matthew Might8Steven Rodems9Karsten Baumgärtel10Wei Zheng11National 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, USATravere Therapeutics, 3611 Valley Centre Drive, Suite 300, San Diego, CA, USATravere Therapeutics, 3611 Valley Centre Drive, Suite 300, San Diego, CA, USANational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA; Corresponding author.NGLY1 deficiency is a rare recessive genetic disease caused by mutations in the NGLY1 gene which codes for N-glycanase 1 (NGLY1). Here, we report the generation of two gene corrected iPSC lines using a patient-derived iPSC line (NCATS-CL6103) that carried a homozygous p.R401X mutation in the NGLY1 gene. These lines contain either one (NCATS-CL6104) or two (NCATS-CL6105) CRISPR/Cas9 corrected alleles of NGLY1. This pair of NGLY1 mutation corrected iPSC lines can be used as a control for the NCATS-CL6103 which serves as a cell-based NGLY1 disease model for the study of the disease pathophysiology and evaluation of therapeutics under development.http://www.sciencedirect.com/science/article/pii/S1873506121004013 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Ivan Pavlinov Atena Farkhondeh Shu Yang Miao Xu Yu-Shan Cheng Jeanette Beers Jizhong Zou Chengyu Liu Matthew Might Steven Rodems Karsten Baumgärtel Wei Zheng |
| spellingShingle |
Ivan Pavlinov Atena Farkhondeh Shu Yang Miao Xu Yu-Shan Cheng Jeanette Beers Jizhong Zou Chengyu Liu Matthew Might Steven Rodems Karsten Baumgärtel Wei Zheng Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9 Stem Cell Research |
| author_facet |
Ivan Pavlinov Atena Farkhondeh Shu Yang Miao Xu Yu-Shan Cheng Jeanette Beers Jizhong Zou Chengyu Liu Matthew Might Steven Rodems Karsten Baumgärtel Wei Zheng |
| author_sort |
Ivan Pavlinov |
| title |
Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9 |
| title_short |
Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9 |
| title_full |
Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9 |
| title_fullStr |
Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9 |
| title_full_unstemmed |
Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9 |
| title_sort |
generation of two gene corrected human isogenic ipsc lines (ncats-cl6104 and ncats-cl6105) from a patient line (ncats-cl6103) carrying a homozygous p.r401x mutation in the ngly1 gene using crispr/cas9 |
| publisher |
Elsevier |
| series |
Stem Cell Research |
| issn |
1873-5061 |
| publishDate |
2021-10-01 |
| description |
NGLY1 deficiency is a rare recessive genetic disease caused by mutations in the NGLY1 gene which codes for N-glycanase 1 (NGLY1). Here, we report the generation of two gene corrected iPSC lines using a patient-derived iPSC line (NCATS-CL6103) that carried a homozygous p.R401X mutation in the NGLY1 gene. These lines contain either one (NCATS-CL6104) or two (NCATS-CL6105) CRISPR/Cas9 corrected alleles of NGLY1. This pair of NGLY1 mutation corrected iPSC lines can be used as a control for the NCATS-CL6103 which serves as a cell-based NGLY1 disease model for the study of the disease pathophysiology and evaluation of therapeutics under development. |
| url |
http://www.sciencedirect.com/science/article/pii/S1873506121004013 |
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