Cellosaurus logo
expasy logo

Cellosaurus NIHTVBi006-A (CVCL_YM86)

[Text][XML][JSON]
Cell line name NIHTVBi006-A
Synonyms HT407D
Accession CVCL_YM86
Resource Identification Initiative To cite this cell line use: NIHTVBi006-A (RRID:CVCL_YM86)
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; HGNC:7883; NOTCH3; Simple; p.Cys233Gly (c.697T>G); 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 43Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=32344328

Markers:
AmelogeninX,Y
CSF1PO9,10
D3S135815
D5S81811,12
D7S82010,11
D8S117913,16
D13S3178,12
D16S53911,13
D18S5115,16
D21S1130
FGA23,24
Penta D11
Penta E12,19
TH018,9
TPOX11,12
vWA16

Run an STR similarity search on this cell line
Publications

PubMed=32344328; DOI=10.1016/j.scr.2020.101821; PMCID=PMC7309701
Gui-Bin Chen, Zhong-Wen Li, Yang-Tengyu Liu, Daniel Chen, Jeanette K. Beers, Cornelia Cudrici, Elisa A. Ferrante, Robin Schwartzbeck, Natalia Dmitrieva, Dan Yang, Ji-Zhong Zou ...Show all 13 authors... , M. Luisa Iruela-Arispe, Manfred Boehm; Show fewer authors
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; NIHTVBi006-A
Encyclopedic resources Wikidata; Q98127872
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number7