ID   ICCSICi006-A
AC   CVCL_UN03
SY   IC-AD6-F-iPS-4F-1
DR   hPSCreg; ICCSICi006-A
DR   Wikidata; Q94313345
RX   PubMed=31627126;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/154/Caracteristicas%20-%20Documento%20de%20Dep%c3%b3sito%20IC-AD6-F-iPS-4F-1.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/154/Anexo%20-%20Anexo%20IC-AD6-F-iPS-4F-1.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Instituto Cajal; Madrid; Spain.
CC   Sequence variation: Mutation; HGNC; 9508; PSEN1; Simple; p.Gly206Asp (c.617G>A); ClinVar=VCV000807473; Zygosity=Heterozygous (PubMed=31627126).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): BNLC
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D13S317: 8,11
ST   D16S539: 9,13
ST   D21S11: 30,31.2
ST   D5S818: 11,12
ST   D7S820: 11,12
ST   TH01: 7,9.3
ST   TPOX: 8,11
ST   vWA: 16
DI   NCIt; C123412; Alzheimer's disease 3
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 30-01-24; Version: 10
//
RX   PubMed=31627126; DOI=10.1016/j.scr.2019.101574;
RA   Diaz-Guerra E., Oria-Muriel M.A., Moreno-Jimenez E.P., de Rojas I.,
RA   Rodriguez C., Rodriguez-Traver E., Orera M., Hernandez I., Ruiz A.,
RA   Vicario-Abejon C.;
RT   "Generation of an integration-free iPSC line, ICCSICi006-A, derived
RT   from a male Alzheimer's disease patient carrying the PSEN1-G206D
RT   mutation.";
RL   Stem Cell Res. 40:101574-101574(2019).
//