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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.
Fukusumi, Hayato; Togo, Kazuyuki; Beck, Goichi; Shofuda, Tomoko; Kanematsu, Daisuke; Yamamoto, Atsuyo; Sumida, Miho; Baba, Kousuke; Mochizuki, Hideki; Kanemura, Yonehiro.
Affiliation
  • Fukusumi H; Division of Stem Cell Research, Department of Biomedical Research and Innovation, Institute for Clinical Research, National Hospital Organization Osaka National Hospital, Japan.
  • Togo K; Department of Neurology, Graduate School of Medicine, Osaka University, Japan.
  • Beck G; Department of Neurology, Graduate School of Medicine, Osaka University, Japan.
  • Shofuda T; Division of Stem Cell Research, Department of Biomedical Research and Innovation, Institute for Clinical Research, National Hospital Organization Osaka National Hospital, Japan.
  • Kanematsu D; Division of Regenerative Medicine, Department of Biomedical Research and Innovation, Institute for Clinical Research, National Hospital Organization Osaka National Hospital, Japan.
  • Yamamoto A; Division of Regenerative Medicine, Department of Biomedical Research and Innovation, Institute for Clinical Research, National Hospital Organization Osaka National Hospital, Japan.
  • Sumida M; Division of Regenerative Medicine, Department of Biomedical Research and Innovation, Institute for Clinical Research, National Hospital Organization Osaka National Hospital, Japan.
  • Baba K; Department of Neurology, Graduate School of Medicine, Osaka University, Japan.
  • Mochizuki H; Department of Neurology, Graduate School of Medicine, Osaka University, Japan.
  • Kanemura Y; Division 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.
Stem Cell Res ; 69: 103122, 2023 06.
Article in En | MEDLINE | ID: mdl-37209469
ABSTRACT
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neuroaxonal Dystrophies / Neurodegenerative Diseases / Induced Pluripotent Stem Cells Limits: Humans Language: En Journal: Stem Cell Res Year: 2023 Document type: Article Affiliation country: Japan
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neuroaxonal Dystrophies / Neurodegenerative Diseases / Induced Pluripotent Stem Cells Limits: Humans Language: En Journal: Stem Cell Res Year: 2023 Document type: Article Affiliation country: Japan