ID   NIHTVBi004-A
AC   CVCL_ZE05
SY   HT405A
DR   hPSCreg; NIHTVBi004-A
DR   Wikidata; Q98127867
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.Arg332Cys (c.994C>T); ClinVar=VCV000009224; 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: 10,12
ST   D13S317: 9,14
ST   D16S539: 9,11
ST   D18S51: 14,15
ST   D21S11: 31
ST   D3S1358: 14
ST   D5S818: 11,12
ST   D7S820: 10,12
ST   D8S1179: 15
ST   FGA: 22,25
ST   Penta D: 12,13
ST   Penta E: 7
ST   TH01: 6,9.3
ST   TPOX: 8,11
ST   vWA: 14,16
DI   NCIt; C84606; CADASIL syndrome
DI   ORDO; Orphanet_136; CADASIL
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   43Y
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).
//