論文 - 詳細
| RRC ID | 62826 |
|---|---|
| 著者 | Suga M, Kondo T, Imamura K, Shibukawa R, Okanishi Y, Sagara Y, Tsukita K, Enami T, Furujo M, Saijo K, Nakamura Y, Osawa M, Saito MK, Yamanaka S, Inoue H. |
| タイトル | Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I. |
| ジャーナル | Stem Cell Res |
| Abstract |
Mucopolysaccharidosis type I (MPS I) is a rare inherited metabolic disorder caused by defects in alpha-L-iduronidase (IDUA), a lysosomal protein encoded by IDUA gene. MPS I is a progressive multisystemic disorder with a wide range of symptoms, including skeletal abnormalities and cognitive impairment, and is characterized by a wide spectrum of severity levels caused by varied mutations in IDUA. A human iPSC line was established from an attenuated MPS I (Scheie syndrome) patient carrying an IDUA gene mutation (c.266G > A; p.R89Q). This disease-specific iPSC line will be useful for the research of MPS I. |
| 巻・号 | 36 |
| ページ | 101406 |
| 公開日 | 2019-4-1 |
| DOI | 10.1016/j.scr.2019.101406 |
| PII | S1873-5061(19)30036-4 |
| PMID | 30849633 |
| MeSH | Cell Line* Female Humans Iduronidase / genetics* Induced Pluripotent Stem Cells* Middle Aged Mucopolysaccharidosis I / genetics* |
| IF | 4.495 |
| リソース情報 | |
| ヒト・動物細胞 | Vero(RCB0001) |