Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations

Yuji Kuramochi, Tomonari Awaya, Mami Matsuo-Takasaki, Miho Takami, Yuri An, Jingyue Li, Yasuko Hemmi, Tamami Wakabayashi, Yutaka Arai, Jun Inoue, Michiya Noguchi, Yukio Nakamura, Isao Asaka, Kazunori Akimoto, Megumu K. Saito, Yohei Hayashi

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

Abstract

Adrenoleukodystrophy (ALD) is an X-linked genetic disorder, characterized by demyelination in the central nervous system and adrenal insufficiency. Human induced pluripotent stem cell (hiPSC) lines derived from two Japanese male patients with ALD were generated from skin fibroblasts using retroviral vectors. The generated hiPSC lines showed self-renewal and pluripotency, and carried either a missense or a nonsense mutation in ABCD1 gene. Since the molecular pathogenesis caused by ABCD1 dysfunction remains unclear, these cell resources provide useful tools to establish disease models and to develop new therapies for X-ALD.

Original languageEnglish
Article number102337
JournalStem Cell Research
Volume53
DOIs
Publication statusPublished - May 2021

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