We examine iPSC lines deposited in and provided by RIKEN cell bank for their characteristics described below.
- Self-renewal: We analyze proliferation rate and self-renewal marker expression in these iPSC lines.
- Pluripotency: We analyze their pluripotency with embryoid and teratoma formation. Furthermore, if the targeted cell types in each disease are identified and can be obtained by established induction protocol, we will analyze the differentiation potency into these cell lineages.
- Genes and genome: We analyze genomic integrity by karyotyping methods. If the responsible mutations are identified in each disease type, we analyze targeted sequences in each iPSC lines. If the responsible mutations are unknown, we perform whole genome sequencing or other massive genome sequencing methods to gain insight of the genetic cause of the disease and to use the sequence information for genome editing to generate modified iPSC lines
Generation of two human induced pluripotent stem cell lines derived from two juvenile nephronophthisis patients with NPHP1 deletion
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.
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.
Generation of two human induced pluripotent stem cell lines derived from two juvenile nephronophthisis patients with NPHP1 deletion.
Stem Cell Res. 2020 May;45:101815. doi: 10.1016/j.scr.2020.101815. Epub 2020 Apr 21. PMID: 32361464