Reference - Detail
| RRC ID | 85707 |
|---|---|
| Author | Mori M, Yoshii S, Noguchi M, Takagi D, Shimizu T, Ito H, Matsuo-Takasaki M, Nakamura Y, Takahashi S, Hamada H, Ohnuma K, Shiohama T, Hayashi Y. |
| Title | Generation of human induced pluripotent stem cell lines derived from four Rett syndrome patients with MECP2 mutations. |
| Journal | Stem Cell Res |
| Abstract |
Rett syndrome is characterized by severe global developmental impairments with autistic features and loss of purposeful hand skills. Here we show that human induced pluripotent stem cell (hiPSC) lines derived from four Japanese female patients with Rett syndrome are generated from peripheral blood mononuclear cells using Sendai virus vectors. The generated hiPSC lines showed self-renewal and pluripotency and carried heterozygous frameshift, missense, or nonsense mutations in the MECP2 gene. Since the molecular pathogenesis caused by MECP2 dysfunction remains unclear, these cell resources are useful tools to establish disease models and develop new therapies for Rett syndrome. |
| Volume | 77 |
| Pages | 103432 |
| Published | 2024-6-1 |
| DOI | 10.1016/j.scr.2024.103432 |
| PII | S1873-5061(24)00130-2 |
| PMID | 38703668 |
| MeSH | Cell Differentiation Cell Line Female Humans Induced Pluripotent Stem Cells* / metabolism Methyl-CpG-Binding Protein 2* / genetics Methyl-CpG-Binding Protein 2* / metabolism Mutation Rett Syndrome* / genetics Rett Syndrome* / pathology |
| IF | 4.495 |
| Resource | |
| Human and Animal Cells | 1383D6(HPS1006) |