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Cellosaurus NIHTVBi005-A (CVCL_ZE06)

[Text version]
Cell line name NIHTVBi005-A
Synonyms HT406D
Accession CVCL_ZE06
Resource Identification Initiative To cite this cell line use: NIHTVBi005-A (RRID:CVCL_ZE06)
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.Arg169Cys (c.505C>T); ClinVar=VCV000009219; 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 61Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=32344328

Markers:
AmelogeninX
CSF1PO10,12
D3S135816,18
D5S81811,12
D7S8208,11
D8S117913,15
D13S31710,12
D16S5399,10
D18S5112,15
D21S1129,34.2
FGA19,22
Penta D9
Penta E12,13
TH016,9
TPOX8
vWA16,17

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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; NIHTVBi005-A
Encyclopedic resources Wikidata; Q98127869
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number5