ID   HPS0447
AC   CVCL_ZB55
SY   BRCi010-A; CiRA-j-0004-B
DR   hPSCreg; BRCi010-A
DR   RCB; HPS0447
DR   SKIP; SKIP005803
DR   Wikidata; Q98126700
RX   PubMed=32361464;
CC   Population: Japanese.
CC   Sequence variation: Gene deletion; HGNC; 7905; NPHP1; Zygosity=Homozygous (PubMed=32361464).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C74998; Nephronophthisis 1
DI   ORDO; Orphanet_655; Nephronophthisis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_ZB54 ! HPS0446
OI   CVCL_ZB56 ! HPS0448
SX   Female
AG   30-39Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32361464; DOI=10.1016/j.scr.2020.101815;
RA   Arai Y., Takami M., An Y., Matsuo-Takasaki M., Hemmi Y.,
RA   Wakabayashi T., Inoue J., Noguchi M., Nakamura Y., Sugimoto K.,
RA   Takemura T., Okita K., Osafune K., Takasato M., Hayata T.,
RA   Hayashi Y.;
RT   "Generation of two human induced pluripotent stem cell lines derived
RT   from two juvenile nephronophthisis patients with NPHP1 deletion.";
RL   Stem Cell Res. 45:101815-101815(2020).
//