ID   PFIZi021-A
AC   CVCL_RF99
SY   OD001-S7
DR   BioSamples; SAMEA4563388
DR   EBiSC; PFIZi021-A
DR   hPSCreg; PFIZi021-A
DR   Wikidata; Q54947276
CC   From: Pfizer, Inc.; New York; USA.
CC   Sequence variation: Mutation; HGNC; 10585; SCN1A; Simple; p.Thr1721Lys (c.5162C>A); ClinVar=VCV000206859; Zygosity=Heterozygous; Note=De novo mutation (hPSCreg=PFIZi021-A).
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)
SX   Male
AG   10-14Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 12
//