ID   PFIZi017-A
AC   CVCL_RF96
SY   BC142c7; RCi209
DR   BioSamples; SAMEA4458848
DR   EBiSC; PFIZi017-A
DR   hPSCreg; PFIZi017-A
DR   Wikidata; Q54947272
CC   From: Pfizer, Inc.
CC   Sequence variation: Mutation; HGNC; 10585; SCN1A; Simple; p.Cys1741Ser (c.5222G>C) (C1730S); ClinVar=VCV000577486; Zygosity=Heterozygous (EBiSC).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C147071; Early infantile epileptic encephalopathy 6
DI   ORDO; Orphanet_33069; Dravet syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   25-29Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 20-05-21; Version: 6
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