ID   PFIZi015-A
AC   CVCL_IJ02
SY   OD003-s5
DR   BioSamples; SAMEA4454948
DR   EBiSC; PFIZi015-A
DR   ECACC; 66540376
DR   hPSCreg; PFIZi015-A
DR   SKIP; SKIP002865
DR   Wikidata; Q54947270
CC   From: Pfizer, Inc.
CC   Sequence variation: Mutation; HGNC; 10585; SCN1A; Simple; p.Ser551Profs*6 (c.1650delC); 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   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 01-12-16; Last updated: 20-05-21; Version: 10
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