Generation of a human induced pluripotent stem cell (iPSC) line ERPLi004-A from an Alpha-1 antitrypsin deficiency (AATD) patient with SERPINA1 mutation
Alpha-1 antitrypsin deficiency (AATD) is an autosomal disorder that causes liver and lung disease. The risk of developing lung emphysema, chronic obstructive pulmonary disorder and liver cirrhosis is observed in >75 % people affected with a homozygous mutation. Here, we describe the generation of...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-03-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125000145 |
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| author | Harshini Surendran Rajani Battu Renjitha Gopurappilly Chethala N. Vishnuprasad Rajarshi Pal |
| author_facet | Harshini Surendran Rajani Battu Renjitha Gopurappilly Chethala N. Vishnuprasad Rajarshi Pal |
| author_sort | Harshini Surendran |
| collection | DOAJ |
| description | Alpha-1 antitrypsin deficiency (AATD) is an autosomal disorder that causes liver and lung disease. The risk of developing lung emphysema, chronic obstructive pulmonary disorder and liver cirrhosis is observed in >75 % people affected with a homozygous mutation. Here, we describe the generation of an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMC) isolated from a AATD patient using non viral and non-integrating episomal vectors. The iPSC line expresses pluripotency markers, generates three germ layers in vitro and retains a normal karyotype (P20) and can provide an ideal tool for disease modelling, drug screening, and personalized medicine. |
| format | Article |
| id | doaj-art-0bab1c6732ea49e7a0918d7042a07fa2 |
| institution | Kabale University |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-0bab1c6732ea49e7a0918d7042a07fa22025-01-31T05:11:11ZengElsevierStem Cell Research1873-50612025-03-0183103664Generation of a human induced pluripotent stem cell (iPSC) line ERPLi004-A from an Alpha-1 antitrypsin deficiency (AATD) patient with SERPINA1 mutationHarshini Surendran0Rajani Battu1Renjitha Gopurappilly2Chethala N. Vishnuprasad3Rajarshi Pal4The University of Trans-Disciplinary Health Sciences and Technology, Bengaluru 560064, India; Eyestem Research, Centre for Cellular and Molecular Platforms (C-CAMP), Bengaluru 560065, IndiaEyestem Research, Centre for Cellular and Molecular Platforms (C-CAMP), Bengaluru 560065, India; Centre for Eye Genetics and Research, Bengaluru 560064, IndiaNKure Therapeutics, Centre for Cellular and Molecular Platforms (C-CAMP), Bengaluru 560065, IndiaThe University of Trans-Disciplinary Health Sciences and Technology, Bengaluru 560064, IndiaThe University of Trans-Disciplinary Health Sciences and Technology, Bengaluru 560064, India; Eyestem Research, Centre for Cellular and Molecular Platforms (C-CAMP), Bengaluru 560065, India; Corresponding author at: The University of Trans-Disciplinary Health Sciences and Technology, Bengaluru 560064, India.Alpha-1 antitrypsin deficiency (AATD) is an autosomal disorder that causes liver and lung disease. The risk of developing lung emphysema, chronic obstructive pulmonary disorder and liver cirrhosis is observed in >75 % people affected with a homozygous mutation. Here, we describe the generation of an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMC) isolated from a AATD patient using non viral and non-integrating episomal vectors. The iPSC line expresses pluripotency markers, generates three germ layers in vitro and retains a normal karyotype (P20) and can provide an ideal tool for disease modelling, drug screening, and personalized medicine.http://www.sciencedirect.com/science/article/pii/S1873506125000145 |
| spellingShingle | Harshini Surendran Rajani Battu Renjitha Gopurappilly Chethala N. Vishnuprasad Rajarshi Pal Generation of a human induced pluripotent stem cell (iPSC) line ERPLi004-A from an Alpha-1 antitrypsin deficiency (AATD) patient with SERPINA1 mutation Stem Cell Research |
| title | Generation of a human induced pluripotent stem cell (iPSC) line ERPLi004-A from an Alpha-1 antitrypsin deficiency (AATD) patient with SERPINA1 mutation |
| title_full | Generation of a human induced pluripotent stem cell (iPSC) line ERPLi004-A from an Alpha-1 antitrypsin deficiency (AATD) patient with SERPINA1 mutation |
| title_fullStr | Generation of a human induced pluripotent stem cell (iPSC) line ERPLi004-A from an Alpha-1 antitrypsin deficiency (AATD) patient with SERPINA1 mutation |
| title_full_unstemmed | Generation of a human induced pluripotent stem cell (iPSC) line ERPLi004-A from an Alpha-1 antitrypsin deficiency (AATD) patient with SERPINA1 mutation |
| title_short | Generation of a human induced pluripotent stem cell (iPSC) line ERPLi004-A from an Alpha-1 antitrypsin deficiency (AATD) patient with SERPINA1 mutation |
| title_sort | generation of a human induced pluripotent stem cell ipsc line erpli004 a from an alpha 1 antitrypsin deficiency aatd patient with serpina1 mutation |
| url | http://www.sciencedirect.com/science/article/pii/S1873506125000145 |
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