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


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. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Kuramochi Y, Awaya T, Matsuo-Takasaki M, Takami M, An Y, Li J, Hemmi Y, Wakabayashi T, Arai Y, Inoue J, Noguchi M, Nakamura Y, Asaka I, Akimoto K, Saito MK, Hayashi Y
Journal Stem cell research
Publication Date 2021 May;53:102337
PubMed 33901816
DOI 10.1016/j.scr.2021.102337

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