ID   HPS0446
AC   CVCL_ZB54
SY   BRCi010-C
DR   hPSCreg; BRCi010-C
DR   RCB; HPS0446
DR   Wikidata; Q98126699
CC   Population: Japanese.
CC   Sequence variation: Gene deletion; HGNC; HGNC:7905; NPHP1; Zygosity=Homozygous (from autologous cell line HPS0447).
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_ZB55 ! HPS0447
OI   CVCL_ZB56 ! HPS0448
SX   Female
AG   30-39Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 9
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