ID   HPS2824
AC   CVCL_D0V1
DR   RCB; HPS2824
DR   Wikidata; Q123032415
CC   Sequence variation: Mutation; HGNC; HGNC:18040; ARID1B; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS2824).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C35321; Coffin-Siris syndrome
DI   ORDO; Orphanet_1465; Coffin-Siris syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D0UZ ! HPS2822
OI   CVCL_D0V0 ! HPS2823
OI   CVCL_D0V2 ! HPS2825
OI   CVCL_D0V3 ! HPS2826
OI   CVCL_D0V4 ! HPS2827
SX   Female
AG   6-9Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
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