ID   STBCi014-B
AC   CVCL_RB57
SY   SFC808-03-04; SB808-03-04
DR   BioSamples; SAMEA104493619
DR   EBiSC; STBCi014-B
DR   ECACC; 66540662
DR   hPSCreg; STBCi014-B
DR   Wikidata; Q54956370
RX   PubMed=30245212;
CC   From: StemBANCC; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 9508; PSEN1; Simple; c.338+1delG (p.Leu113_Ile114insThr) (int4del); ClinVar=VCV000098013; Zygosity=Unspecified (EBiSC).
CC   Omics: Transcriptome analysis.
CC   Derived from sampling site: Skin.
DI   NCIt; C123412; Familial Alzheimer's disease, type 3
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_RB56 ! STBCi014-A
OI   CVCL_RB58 ! STBCi014-C
SX   Female
AG   45-49Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 16-12-21; Version: 7
//
RX   PubMed=30245212; DOI=10.1016/j.stemcr.2018.08.013;
RA   Volpato V., Smith J., Sandor C., Ried J.S., Baud A., Handel A.,
RA   Newey S.E., Wessely F., Attar M., Whiteley E., Chintawar S.,
RA   Verheyen A., Barta T., Lako M., Armstrong L., Muschet C., Artati A.,
RA   Cusulin C., Christensen K., Patsch C., Sharma E., Nicod J.,
RA   Brownjohn P., Stubbs V., Heywood W.E., Gissen P., De Filippis R.,
RA   Janssen K., Reinhardt P., Adamski J., Royaux I., Peeters P.J.,
RA   Terstappen G.C., Graf M., Livesey F.J., Akerman C.J., Mills K.,
RA   Bowden R., Nicholson G., Webber C., Cader M.Z., Lakics V.;
RT   "Reproducibility of molecular phenotypes after long-term
RT   Differentiation to human iPSC-derived neurons: a multi-site omics
RT   study.";
RL   Stem Cell Reports 11:897-911(2018).
//