ID   HPS1462
AC   CVCL_YR63
DR   RCB; HPS1462
DR   Wikidata; Q94219770
CC   Sequence variation: Mutation; HGNC; HGNC:10585; SCN1A; Unexplicit; Not described; Zygosity=Heterozygous (RCB=HPS1462).
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_UN81 ! HPS1460
OI   CVCL_YR62 ! HPS1461
OI   CVCL_YR64 ! HPS1463
OI   CVCL_YR65 ! HPS1464
OI   CVCL_YR66 ! HPS1465
SX   Female
AG   6-9Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 9
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