ID   HPS3180
AC   CVCL_A3KF
DR   RCB; HPS3180
DR   Wikidata; Q105509106
CC   Sequence variation: Mutation; HGNC; HGNC:11444; STXBP1; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS3180).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C162472; Developmental and epileptic encephalopathy 4
DI   ORDO; Orphanet_1934; Early infantile epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A3KE ! HPS3179
OI   CVCL_A3KG ! HPS3181
OI   CVCL_A3KH ! HPS3182
OI   CVCL_A3KI ! HPS3183
OI   CVCL_A3KJ ! HPS3184
SX   Male
AG   6-9Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
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