ID   UKBi010-A
AC   CVCL_IU29
SY   iLB-DS-95f-r8
DR   BioSamples; SAMEA104008300
DR   EBiSC; UKBi010-A
DR   ECACC; 66540572
DR   hPSCreg; UKBi010-A
DR   SKIP; SKIP002908
DR   Wikidata; Q54990266
CC   From: Institut fur Rekonstruktive Neurobiologie, University Clinic of Bonn; Bonn; Germany.
CC   Sequence variation: Mutation; HGNC; 10585; SCN1A; Simple; p.Ile110Valfs*10 (c.323_326dupTGTA); Zygosity=Unspecified (EBiSC=UKBi010-A).
CC   Discontinued: EBiSC; UKBi010-A; true.
CC   Discontinued: ECACC; 66540572; true.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C147071; Developmental and epileptic encephalopathy 6A
DI   ORDO; Orphanet_33069; Dravet syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5-9Y
CA   Induced pluripotent stem cell
DT   Created: 03-03-17; Last updated: 30-01-24; Version: 15
//