RRC ID 72249
著者 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.
タイトル Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations.
ジャーナル Stem Cell Res
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.
巻・号 53
ページ 102337
公開日 2021-5-1
DOI 10.1016/j.scr.2021.102337
PII S1873-5061(21)00183-5
PMID 33901816
MeSH ATP Binding Cassette Transporter, Subfamily D, Member 1 / genetics Adrenoleukodystrophy* / genetics Fibroblasts Genetic Diseases, X-Linked* Humans Induced Pluripotent Stem Cells* Male Mutation / genetics
IF 4.495
リソース情報
ヒト・動物細胞 HPS1090 HPS1096 Vero(RCB0001)