ID   PFIZi030-A
AC   CVCL_VE78
SY   B216c13
DR   BioSamples; SAMEA104492931
DR   EBiSC; PFIZi030-A
DR   ECACC; 66540641
DR   hPSCreg; PFIZi030-A
DR   Wikidata; Q54947284
CC   From: Pfizer, Inc.; New York; USA.
CC   Sequence variation: Mutation; HGNC; 7944; NPR2; Simple; p.Thr297Met (c.890C>T); Zygosity=Unspecified (EBiSC=PFIZi030-A).
CC   Discontinued: ECACC; 66540641; true.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C116573; Dravet syndrome
DI   ORDO; Orphanet_33069; Dravet syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   15-19Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 30-01-24; Version: 10
//