ID   STBCi014-A
AC   CVCL_RB56
SY   SFC808-03-03
DR   BioSamples; SAMEA104493617
DR   EBiSC; STBCi014-A
DR   ECACC; 66540661
DR   hPSCreg; STBCi014-A
DR   Wikidata; Q54956369
CC   From: StemBANCC; Oxford; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 9508; PSEN1; Simple; c.338+1delG (p.Leu113_Ile114insThr) (int4del); ClinVar=VCV000098013; Zygosity=Heterozygous (EBiSC=STBCi014-A).
CC   Discontinued: ECACC; 66540661; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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_RB57 ! STBCi014-B
OI   CVCL_RB58 ! STBCi014-C
SX   Female
AG   45-49Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 30-01-24; Version: 12
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