ID   INSRMi002-A
AC   CVCL_WN90
SY   PC117_c2
DR   BioSamples; SAMEA5794618
DR   hPSCreg; INSRMi002-A
DR   Wikidata; Q94318176
CC   From: INSERM; Paris; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 18423; DEPDC5; Simple; p.Glu1420Argfs*153 (c.4260delG); Zygosity=Heterozygous (hPSCreg=INSRMi002-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C161005; Familial focal epilepsy with variable foci 1
DI   ORDO; Orphanet_98820; Familial focal epilepsy with variable foci
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   30-34Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 7
//