ID   ICGi008-B
AC   CVCL_UJ82
SY   m55Alz-15L
DR   BioSamples; SAMEA5359103
DR   hPSCreg; ICGi008-B
DR   Wikidata; Q94313423
RX   PubMed=30851551;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 620; APP; Simple; p.Val717Ile (c.2149G>A); ClinVar=VCV000018088; Zygosity=Heterozygous (PubMed=30851551).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2866; Alzheimer's disease
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UJ81 ! ICGi008-A
SX   Male
AG   55Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=30851551; DOI=10.1016/j.scr.2019.101415;
RA   Grigor'eva E.V., Malankhanova T.B., Ustyantseva E.I., Minina J.M.,
RA   Redina O.E., Morozov V.V., Shevela A.I., Zakian S.M., Medvedev S.P.;
RT   "Generation of two iPSC lines (ICGi008-A and ICGi008-B) from skin
RT   fibroblasts of a patient with early-onset Alzheimer's disease caused
RT   by London familial APP mutation (V717I).";
RL   Stem Cell Res. 36:101415-101415(2019).
//