ID   HPS2834
AC   CVCL_UP20
DR   RCB; HPS2834
DR   Wikidata; Q94220263
CC   Sequence variation: Mutation; HGNC; HGNC:10585; SCN1A; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS2834).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C147071; Developmental and epileptic encephalopathy 6A
DI   ORDO; Orphanet_33069; Dravet syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YR94 ! HPS2835
OI   CVCL_YR95 ! HPS2836
OI   CVCL_YR96 ! HPS2837
OI   CVCL_YR97 ! HPS2838
OI   CVCL_YR98 ! HPS2839
SX   Female
AG   6-9Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 10
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