ID   HPS2870
AC   CVCL_UP23
DR   RCB; HPS2870
DR   Wikidata; Q94220320
CC   Sequence variation: Mutation; HGNC; HGNC:26527; HGSNAT; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS2870).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84899; Mucopolysaccharidosis type IIIC
DI   ORDO; Orphanet_79271; Sanfilippo syndrome type C
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A3MY ! HPS2871
OI   CVCL_A3MZ ! HPS2872
OI   CVCL_A3NA ! HPS2873
OI   CVCL_A3NB ! HPS2874
OI   CVCL_A3NC ! HPS2875
SX   Female
AG   30-39Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 8
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