ID   HUJIi003-A
AC   CVCL_C1TG
SY   iWSM-S5
DR   BioSamples; SAMEA6914467
DR   hPSCreg; HUJIi003-A
DR   Wikidata; Q114311681
CC   From: Hebrew University; Jerusalem; Israel.
CC   Population: Jewish; Yemenite.
CC   Sequence variation: Mutation; HGNC; 12799; WWOX; Simple; c.517-2A>G; Zygosity=Homozygous; Note=Splice acceptor mutation (hPSCreg=HUJIi003-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C189273; Developmental and epileptic encephalopathy 28
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//