Ontology highlight
ABSTRACT:
SUBMITTER: Tanigawa S
PROVIDER: S-EPMC6135868 | biostudies-other | 2018 Sep
REPOSITORIES: biostudies-other
Tanigawa Shunsuke S Islam Mazharul M Sharmin Sazia S Naganuma Hidekazu H Yoshimura Yasuhiro Y Haque Fahim F Era Takumi T Nakazato Hitoshi H Nakanishi Koichi K Sakuma Tetsushi T Yamamoto Takashi T Kurihara Hidetake H Taguchi Atsuhiro A Nishinakamura Ryuichi R
Stem cell reports 20180830 3
Mutations in the NPHS1 gene, which encodes NEPHRIN, cause congenital nephrotic syndrome, resulting from impaired slit diaphragm (SD) formation in glomerular podocytes. However, methods for SD reconstitution have been unavailable, thereby limiting studies in the field. In the present study, we established human induced pluripotent stem cells (iPSCs) from a patient with an NPHS1 missense mutation, and reproduced the SD formation process using iPSC-derived kidney organoids. The mutant NEPHRIN faile ...[more]