ID   HPS0451
AC   CVCL_ZE70
DR   RCB; HPS0451
DR   Wikidata; Q98126706
CC   Population: Japanese.
CC   Sequence variation: Gene deletion; HGNC; 7905; NPHP1; Zygosity=Homozygous (from autologous cell line HPS0450).
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_ZE68 ! HPS0449
OI   CVCL_ZE69 ! HPS0450
SX   Male
AG   30-39Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 7
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