Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation
SLC26A4 is the second most frequent gene implicated in congenital hearing loss after GJB2 mutations. Here, we report the generation of induced pluripotent stem cells (iPSCs), from a patient who was carrying a homozygous c.919-2A>G variant in the SLC26A4 gene. This is the most common variant of SL...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2019-10-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506119301540 |
| _version_ | 1828773073566826496 |
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| author | Yen-Fu Cheng Yen-Hui Chan Chin-Ju Hu Ying-Chang Lu Tsubasa Saeki Makoto Hosoya Chika Saegusa Masato Fujioka Hideyuki Okano Shih-Ming Weng Chuan-Jen Hsu Kuo-Hsuan Chang Chen-Chi Wu |
| author_facet | Yen-Fu Cheng Yen-Hui Chan Chin-Ju Hu Ying-Chang Lu Tsubasa Saeki Makoto Hosoya Chika Saegusa Masato Fujioka Hideyuki Okano Shih-Ming Weng Chuan-Jen Hsu Kuo-Hsuan Chang Chen-Chi Wu |
| author_sort | Yen-Fu Cheng |
| collection | DOAJ |
| description | SLC26A4 is the second most frequent gene implicated in congenital hearing loss after GJB2 mutations. Here, we report the generation of induced pluripotent stem cells (iPSCs), from a patient who was carrying a homozygous c.919-2A>G variant in the SLC26A4 gene. This is the most common variant of SLC26A4 gene in the Chinese population and the second most prevalent one in other Asian countries. The established patient-derived iPSC displayed all the features of pluripotent stem cell markers and had the ability to differentiate into all of the three germ layers and possessed a normal karyotype. |
| first_indexed | 2024-12-11T14:55:20Z |
| format | Article |
| id | doaj.art-24aa29bed2464850a58dac84e29e8071 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-11T14:55:20Z |
| publishDate | 2019-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-24aa29bed2464850a58dac84e29e80712022-12-22T01:01:19ZengElsevierStem Cell Research1873-50612019-10-0140Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutationYen-Fu Cheng0Yen-Hui Chan1Chin-Ju Hu2Ying-Chang Lu3Tsubasa Saeki4Makoto Hosoya5Chika Saegusa6Masato Fujioka7Hideyuki Okano8Shih-Ming Weng9Chuan-Jen Hsu10Kuo-Hsuan Chang11Chen-Chi Wu12Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Otolaryngology-Head and Neck Surgery, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Speech Language Pathology and Audiology, National Taipei University of Nursing Health Sciences, Taipei, TaiwanDepartment of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan; Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, TaiwanDepartment of Otolaryngology, National Taiwan University Hospital, Taipei, TaiwanDepartment of Otolaryngology, National Taiwan University Hospital, Taipei, TaiwanDepartment of Physiology, Keio University School of Medicine, Tokyo, JapanDepartment of Otorhinolaryngology, Keio University School of Medicine, Tokyo, JapanDepartment of Otorhinolaryngology, Keio University School of Medicine, Tokyo, JapanDepartment of Otorhinolaryngology, Keio University School of Medicine, Tokyo, JapanDepartment of Physiology, Keio University School of Medicine, Tokyo, JapanDepartment of Speech Language Pathology and Audiology, National Taipei University of Nursing Health Sciences, Taipei, Taiwan; Department of Pediatrics, Wan Fang Hospital, Taipei Medical University, Taipei, TaiwanDepartment of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, TaiwanDepartment of Neurology, Chang Gung Memorial Hospital and University School of Medicine, Taoyuan, Taiwan; Correspondence to: Kuo-Hsiang Chang, Department of Neurology, Chang Gung Memorial Hospital and University School of Medicine, Taoyuan, TaiwanDepartment of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan; Correspondence to: Chen-Chi Wu, Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.SLC26A4 is the second most frequent gene implicated in congenital hearing loss after GJB2 mutations. Here, we report the generation of induced pluripotent stem cells (iPSCs), from a patient who was carrying a homozygous c.919-2A>G variant in the SLC26A4 gene. This is the most common variant of SLC26A4 gene in the Chinese population and the second most prevalent one in other Asian countries. The established patient-derived iPSC displayed all the features of pluripotent stem cell markers and had the ability to differentiate into all of the three germ layers and possessed a normal karyotype.http://www.sciencedirect.com/science/article/pii/S1873506119301540 |
| spellingShingle | Yen-Fu Cheng Yen-Hui Chan Chin-Ju Hu Ying-Chang Lu Tsubasa Saeki Makoto Hosoya Chika Saegusa Masato Fujioka Hideyuki Okano Shih-Ming Weng Chuan-Jen Hsu Kuo-Hsuan Chang Chen-Chi Wu Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation Stem Cell Research |
| title | Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation |
| title_full | Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation |
| title_fullStr | Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation |
| title_full_unstemmed | Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation |
| title_short | Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation |
| title_sort | generation of a human ips cell line cgmh slc26a4919 2 from a pendred syndrome patient carrying slc26a4 c 919 2a g splice site mutation |
| url | http://www.sciencedirect.com/science/article/pii/S1873506119301540 |
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