Reference - Detail
| RRC ID | 72249 |
|---|---|
| Author | 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. |
| Title | Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations. |
| Journal | 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. |
| Volume | 53 |
| Pages | 102337 |
| Published | 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 |
| Resource | |
| Human and Animal Cells | HPS1090 HPS1096 Vero(RCB0001) |