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Cellosaurus NIHTVBi008-A (CVCL_ZE08)

[Text version]
Cell line name NIHTVBi008-A
Synonyms HT454D
Accession CVCL_ZE08
Resource Identification Initiative To cite this cell line use: NIHTVBi008-A (RRID:CVCL_ZE08)
Comments From: National Heart, Lung, and Blood Institute, National Institutes of Health; Bethesda; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 7883; NOTCH3; Simple; p.Cys455Tyr (c.1364G>A); ClinVar=VCV000447784; Zygosity=Heterozygous (PubMed=32344328).
Disease CADASIL syndrome (NCIt: C84606)
CADASIL (ORDO: Orphanet_136)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 50Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=32344328

Markers:
AmelogeninX,Y
CSF1PO11
D3S135816
D5S81811
D7S8208,10
D8S117912,13
D13S31711
D16S53911
D18S5114,19
D21S1130
FGA21
Penta D10,12
Penta E11
TH017,9
TPOX8,12
vWA16,19

Run an STR similarity search on this cell line
Publications

PubMed=32344328; DOI=10.1016/j.scr.2020.101821; PMCID=PMC7309701
Chen G.-B., Li Z.-W., Liu Y.-T., Chen D., Beers J.K., Cudrici C., Ferrante E.A., Schwartzbeck R., Dmitrieva N., Yang D., Zou J.-Z., Iruela-Arispe M.L., Boehm M.
Generation of human induced pluripotent stem cells (NIHTVBi004-A, NIHTVBi005-A, NIHTVBi006-A, NIHTVBi007-A, NIHTVBi008-A) from 5 CADASIL patients with NOTCH3 mutation.
Stem Cell Res. 45:101821-101821(2020)

Cross-references
Cell line databases/resources hPSCreg; NIHTVBi008-A
Encyclopedic resources Wikidata; Q98127877
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number5