ID   HPS3058
AC   CVCL_D0XI
DR   RCB; HPS3058
DR   Wikidata; Q123032491
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_D0XJ ! HPS3059
SX   Male
AG   10-19Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
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