ID   IDISi001-A
AC   CVCL_RV23
DR   BioSamples; SAMEA4675695
DR   hPSCreg; IDISi001-A
DR   Wikidata; Q54897302
RX   PubMed=29414412;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/128/Caracteristicas%20-%20Deposito_IDISi001-A-v2.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/128/Anexo%20-%20Anexo_deposito_IDISi001-A-v2.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Health Research Institute of Santiago de Compostela; Santiago de Compostela; Spain.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7883; NOTCH3; Simple; p.Arg1242Cys (c.3724C>T); Zygosity=Heterozygous (PubMed=29414412).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=29414412
ST   Amelogenin: X,Y
ST   CSF1PO: 10,11
ST   D13S317: 10,12
ST   D16S539: 9,11
ST   D21S11: 30,33
ST   D5S818: 11,12
ST   D7S820: 9,10
ST   TH01: 9
ST   TPOX: 8,11
ST   vWA: 17
DI   NCIt; C84606; CADASIL syndrome
DI   ORDO; Orphanet_136; CADASIL
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   67Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 9
//
RX   PubMed=29414412; DOI=10.1016/j.scr.2018.01.023;
RA   Fernandez-Susavila H., Mora C., Aramburu-Nunez M., Quintas-Rey R.,
RA   Arias S., Collado M., Lopez-Arias E., Sobrino T., Castillo J.,
RA   Dell'Era P., Campos F.;
RT   "Generation and characterization of the human iPSC line IDISi001-A
RT   isolated from blood cells of a CADASIL patient carrying a NOTCH3
RT   mutation.";
RL   Stem Cell Res. 28:16-20(2018).
//