ID STBCi012-C AC CVCL_RB53 SY SFC805-03-03 DR BioSamples; SAMEA104493613 DR EBiSC; STBCi012-C DR ECACC; 66540658 DR hPSCreg; STBCi012-C DR Wikidata; Q54956364 CC From: StemBANCC; Oxford; United Kingdom. CC Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Met139Val (c.415A>G); ClinVar=VCV000018128; Zygosity=Unspecified (EBiSC=STBCi012-C). CC Discontinued: EBiSC; STBCi012-C; true. CC Discontinued: ECACC; 66540658; true. CC Cell type: Fibroblast; CL=CL_0000057. DI NCIt; C123412; Alzheimer's disease 3 DI ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease OX NCBI_TaxID=9606; ! Homo sapiens (Human) OI CVCL_RB51 ! STBCi012-A OI CVCL_RB52 ! STBCi012-B SX Female AG 30-34Y CA Induced pluripotent stem cell DT Created: 05-03-18; Last updated: 19-12-24; Version: 13 //