ID   HPS2096
AC   CVCL_UN97
DR   RCB; HPS2096
DR   Wikidata; Q94219912
CC   Sequence variation: Mutation; HGNC; 10585; SCN1A; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS2096).
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_YR77 ! HPS2097
OI   CVCL_YR78 ! HPS2098
OI   CVCL_YR79 ! HPS2099
OI   CVCL_YR80 ! HPS2100
OI   CVCL_YR81 ! HPS2101
SX   Female
AG   6-9Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 05-10-23; Version: 9
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