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Cellosaurus NIHTVBi007-A (CVCL_ZE07)

[Text version]
Cell line name NIHTVBi007-A
Synonyms HT409A
Accession CVCL_ZE07
Resource Identification Initiative To cite this cell line use: NIHTVBi007-A (RRID:CVCL_ZE07)
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.Cys222Tyr (c.665G>A); ClinVar=VCV000447867; 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 Female
Age at sampling 62Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=32344328

Markers:
AmelogeninX
CSF1PO10
D3S135814,16
D5S81812,13
D7S82010,12
D8S117912,14
D13S3178,11
D16S53912,14
D18S5112,15
D21S1128,29
FGA20,21
Penta D12,13
Penta E10,20
TH017
TPOX8,11
vWA17,18

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Publications

PubMed=32344328; DOI=10.1016/j.scr.2020.101821
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; NIHTVBi007-A
Encyclopedic resources Wikidata; Q98127875
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number5