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

Hayato Fukusumi; Kazuyuki Togo; Goichi Beck; Tomoko Shofuda; Daisuke Kanematsu; Atsuyo Yamamoto; Miho Sumida; Kousuke Baba; Hideki Mochizuki; Yonehiro Kanemura

Stem Cell Research (Jun 2023)

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

Hayato Fukusumi,
Kazuyuki Togo,
Goichi Beck,
Tomoko Shofuda,
Daisuke Kanematsu,
Atsuyo Yamamoto,
Miho Sumida,
Kousuke Baba,
Hideki Mochizuki,
Yonehiro Kanemura

Affiliations

Hayato Fukusumi: Division of Stem Cell Research, Department of Biomedical Research and Innovation, Institute for Clinical Research, National Hospital Organization Osaka National Hospital, Japan
Kazuyuki Togo: Department of Neurology, Graduate School of Medicine, Osaka University, Japan
Goichi Beck: Department of Neurology, Graduate School of Medicine, Osaka University, Japan
Tomoko Shofuda: Division of Stem Cell Research, Department of Biomedical Research and Innovation, Institute for Clinical Research, National Hospital Organization Osaka National Hospital, Japan
Daisuke Kanematsu: Division of Regenerative Medicine, Department of Biomedical Research and Innovation, Institute for Clinical Research, National Hospital Organization Osaka National Hospital, Japan
Atsuyo Yamamoto: Division of Regenerative Medicine, Department of Biomedical Research and Innovation, Institute for Clinical Research, National Hospital Organization Osaka National Hospital, Japan
Miho Sumida: Division of Regenerative Medicine, Department of Biomedical Research and Innovation, Institute for Clinical Research, National Hospital Organization Osaka National Hospital, Japan
Kousuke Baba: Department of Neurology, Graduate School of Medicine, Osaka University, Japan
Hideki Mochizuki: Department of Neurology, Graduate School of Medicine, Osaka University, Japan
Yonehiro Kanemura: 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; Corresponding author.

Journal volume & issue: Vol. 69
p. 103122

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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