RRC ID 61672
著者 Arai Y, Takami M, An Y, Matsuo-Takasaki M, Hemmi Y, Wakabayashi T, Inoue J, Noguchi M, Nakamura Y, Sugimoto K, Takemura T, Okita K, Osafune K, Takasato M, Hayata T, Hayashi Y.
タイトル Generation of two human induced pluripotent stem cell lines derived from two juvenile nephronophthisis patients with NPHP1 deletion.
ジャーナル Stem Cell Res
Abstract Juvenile nephronophthisis is an inherited renal ciliopathy, causing cystic kidney disease, renal fibrosis, and end-stage renal failure. Human induced pluripotent stem cell (hiPSC) lines, derived from two Juvenile nephronophthisis patients, were generated from peripheral blood mononuclear cells by episomal plasmid vectors. Generated hiPSC lines showed self-renewal and pluripotency and carried a large deletion in NPHP1 (Nephrocystin 1) gene. Since the molecular pathogenesis caused by NPHP1 dysfunction remains unclear, these cell resources provide useful tools to establish disease models and to develop new therapies for juvenile nephronophthisis.
巻・号 45
ページ 101815
公開日 2020-5-1
DOI 10.1016/j.scr.2020.101815
PII S1873-5061(20)30117-3
PMID 32361464
MeSH Adaptor Proteins, Signal Transducing Cytoskeletal Proteins Fibrosis Humans Induced Pluripotent Stem Cells* Kidney Diseases, Cystic / congenital Leukocytes, Mononuclear Membrane Proteins / genetics
IF 4.495
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リソース情報
ヒト・動物細胞 HPS0447 HPS0450 Vero(RCB0001)