ID   NIHTVBi008-A
AC   CVCL_ZE08
SY   HT454D
DR   hPSCreg; NIHTVBi008-A
DR   Wikidata; Q98127877
RX   PubMed=32344328;
CC   From: National Heart, Lung, and Blood Institute, National Institutes of Health; Bethesda; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7883; NOTCH3; Simple; p.Cys455Tyr (c.1364G>A); ClinVar=VCV000447784; Zygosity=Heterozygous (PubMed=32344328).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=32344328
ST   Amelogenin: X,Y
ST   CSF1PO: 11
ST   D13S317: 11
ST   D16S539: 11
ST   D18S51: 14,19
ST   D21S11: 30
ST   D3S1358: 16
ST   D5S818: 11
ST   D7S820: 8,10
ST   D8S1179: 12,13
ST   FGA: 21
ST   Penta D: 10,12
ST   Penta E: 11
ST   TH01: 7,9
ST   TPOX: 8,12
ST   vWA: 16,19
DI   NCIt; C84606; CADASIL syndrome
DI   ORDO; Orphanet_136; CADASIL
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 5
//
RX   PubMed=32344328; DOI=10.1016/j.scr.2020.101821;
RA   Chen G.-B., Li Z.-W., Liu Y.-T., Chen D., Beers J.K., Cudrici C.,
RA   Ferrante E.A., Schwartzbeck R., Dmitrieva N., Yang D., Zou J.-Z.,
RA   Iruela-Arispe M.L., Boehm M.;
RT   "Generation of human induced pluripotent stem cells (NIHTVBi004-A,
RT   NIHTVBi005-A, NIHTVBi006-A, NIHTVBi007-A, NIHTVBi008-A) from 5 CADASIL
RT   patients with NOTCH3 mutation.";
RL   Stem Cell Res. 45:101821-101821(2020).
//