Human induced pluripotent stem cell line (ONHi001-A) generated from a patient with infantile neuroaxonal dystrophy having PLA2G6 c.517C > T (p.Q173X) and c.1634A > G (p.K545R) compound heterozygous mutations
Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disease caused mainly by homozygous or compound heterozygous mutations in the PLA2G6 gene. We generated a human induced pluripotent stem cell (hiPSC) line (ONHi001-A) using fibroblasts derived from a patient with INAD. The patient ex...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2023-06-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506123001083 |
| _version_ | 1797815856062791680 |
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| author | Hayato Fukusumi Kazuyuki Togo Goichi Beck Tomoko Shofuda Daisuke Kanematsu Atsuyo Yamamoto Miho Sumida Kousuke Baba Hideki Mochizuki Yonehiro Kanemura |
| author_facet | Hayato Fukusumi Kazuyuki Togo Goichi Beck Tomoko Shofuda Daisuke Kanematsu Atsuyo Yamamoto Miho Sumida Kousuke Baba Hideki Mochizuki Yonehiro Kanemura |
| author_sort | Hayato Fukusumi |
| collection | DOAJ |
| description | Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disease caused mainly by homozygous or compound heterozygous mutations in the PLA2G6 gene. We generated a human induced pluripotent stem cell (hiPSC) line (ONHi001-A) using fibroblasts derived from a patient with INAD. The patient exhibited c.517C > T (p.Q173X) and c.1634A > G (p.K545R) compound heterozygous mutations in the PLA2G6 gene. This hiPSC line may be useful for studying the pathogenic mechanism underlying INAD. |
| first_indexed | 2024-03-13T08:30:04Z |
| format | Article |
| id | doaj.art-9cd247d57cbf42cea752d8c3aa8986bb |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-03-13T08:30:04Z |
| publishDate | 2023-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-9cd247d57cbf42cea752d8c3aa8986bb2023-05-31T04:44:16ZengElsevierStem Cell Research1873-50612023-06-0169103122Human induced pluripotent stem cell line (ONHi001-A) generated from a patient with infantile neuroaxonal dystrophy having PLA2G6 c.517C > T (p.Q173X) and c.1634A > G (p.K545R) compound heterozygous mutationsHayato Fukusumi0Kazuyuki Togo1Goichi Beck2Tomoko Shofuda3Daisuke Kanematsu4Atsuyo Yamamoto5Miho Sumida6Kousuke Baba7Hideki Mochizuki8Yonehiro Kanemura9Division of Stem Cell Research, Department of Biomedical Research and Innovation, Institute for Clinical Research, National Hospital Organization Osaka National Hospital, JapanDepartment of Neurology, Graduate School of Medicine, Osaka University, JapanDepartment of Neurology, Graduate School of Medicine, Osaka University, JapanDivision of Stem Cell Research, Department of Biomedical Research and Innovation, Institute for Clinical Research, National Hospital Organization Osaka National Hospital, JapanDivision of Regenerative Medicine, Department of Biomedical Research and Innovation, Institute for Clinical Research, National Hospital Organization Osaka National Hospital, JapanDivision of Regenerative Medicine, Department of Biomedical Research and Innovation, Institute for Clinical Research, National Hospital Organization Osaka National Hospital, JapanDivision of Regenerative Medicine, Department of Biomedical Research and Innovation, Institute for Clinical Research, National Hospital Organization Osaka National Hospital, JapanDepartment of Neurology, Graduate School of Medicine, Osaka University, JapanDepartment of Neurology, Graduate School of Medicine, Osaka University, JapanDivision of Regenerative Medicine, Department of Biomedical Research and Innovation, Institute for Clinical Research, National Hospital Organization Osaka National Hospital, Japan; Department of Neurosurgery, National Hospital Organization Osaka National Hospital, Japan; Corresponding author.Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disease caused mainly by homozygous or compound heterozygous mutations in the PLA2G6 gene. We generated a human induced pluripotent stem cell (hiPSC) line (ONHi001-A) using fibroblasts derived from a patient with INAD. The patient exhibited c.517C > T (p.Q173X) and c.1634A > G (p.K545R) compound heterozygous mutations in the PLA2G6 gene. This hiPSC line may be useful for studying the pathogenic mechanism underlying INAD.http://www.sciencedirect.com/science/article/pii/S1873506123001083 |
| spellingShingle | Hayato Fukusumi Kazuyuki Togo Goichi Beck Tomoko Shofuda Daisuke Kanematsu Atsuyo Yamamoto Miho Sumida Kousuke Baba Hideki Mochizuki Yonehiro Kanemura Human induced pluripotent stem cell line (ONHi001-A) generated from a patient with infantile neuroaxonal dystrophy having PLA2G6 c.517C > T (p.Q173X) and c.1634A > G (p.K545R) compound heterozygous mutations Stem Cell Research |
| title | Human induced pluripotent stem cell line (ONHi001-A) generated from a patient with infantile neuroaxonal dystrophy having PLA2G6 c.517C > T (p.Q173X) and c.1634A > G (p.K545R) compound heterozygous mutations |
| title_full | Human induced pluripotent stem cell line (ONHi001-A) generated from a patient with infantile neuroaxonal dystrophy having PLA2G6 c.517C > T (p.Q173X) and c.1634A > G (p.K545R) compound heterozygous mutations |
| title_fullStr | Human induced pluripotent stem cell line (ONHi001-A) generated from a patient with infantile neuroaxonal dystrophy having PLA2G6 c.517C > T (p.Q173X) and c.1634A > G (p.K545R) compound heterozygous mutations |
| title_full_unstemmed | Human induced pluripotent stem cell line (ONHi001-A) generated from a patient with infantile neuroaxonal dystrophy having PLA2G6 c.517C > T (p.Q173X) and c.1634A > G (p.K545R) compound heterozygous mutations |
| title_short | Human induced pluripotent stem cell line (ONHi001-A) generated from a patient with infantile neuroaxonal dystrophy having PLA2G6 c.517C > T (p.Q173X) and c.1634A > G (p.K545R) compound heterozygous mutations |
| title_sort | human induced pluripotent stem cell line onhi001 a generated from a patient with infantile neuroaxonal dystrophy having pla2g6 c 517c t p q173x and c 1634a g p k545r compound heterozygous mutations |
| url | http://www.sciencedirect.com/science/article/pii/S1873506123001083 |
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