ID   HPS3059
AC   CVCL_D0XJ
DR   RCB; HPS3059
DR   Wikidata; Q123032492
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126746; Congenital disorder of deglycosylation
DI   ORDO; Orphanet_404454; Alacrimia-choreoathetosis-liver dysfunction syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D0XE ! HPS3054
OI   CVCL_D0XF ! HPS3055
OI   CVCL_D0XG ! HPS3056
OI   CVCL_D0XH ! HPS3057
OI   CVCL_D0XI ! HPS3058
SX   Male
AG   10-19Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//