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; 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: 30-01-24; Version: 12
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