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Cellosaurus IDISi001-A (CVCL_RV23)

[Text version]
Cell line name IDISi001-A
Accession CVCL_RV23
Resource Identification Initiative To cite this cell line use: IDISi001-A (RRID:CVCL_RV23)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Health Research Institute of Santiago de Compostela; Santiago de Compostela; Spain.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7883; NOTCH3; Simple; p.Arg1242Cys (c.3724C>T); Zygosity=Heterozygous (PubMed=29414412).
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 67Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29414412

Markers:
AmelogeninX,Y
CSF1PO10,11
D5S81811,12
D7S8209,10
D13S31710,12
D16S5399,11
D21S1130,33
TH019
TPOX8,11
vWA17

Run an STR similarity search on this cell line
Web pages Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Deposito_IDISi001-A-v2.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo_deposito_IDISi001-A-v2.pdf
Publications

PubMed=29414412; DOI=10.1016/j.scr.2018.01.023
Hector Fernandez-Susavila, Cristina Mora, Marta Aramburu-Nunez, Rita Quintas-Rey, Susana Arias, Manuel Collado, Esteban Lopez-Arias, Tomas Sobrino, Jose Castillo, Patrizia Dell'Era, Francisco Campos;
Generation and characterization of the human iPSC line IDISi001-A isolated from blood cells of a CADASIL patient carrying a NOTCH3 mutation.
Stem Cell Res. 28:16-20(2018)

Cross-references
Cell line databases/resources hPSCreg; IDISi001-A
Biological sample resources BioSamples; SAMEA4675695
Encyclopedic resources Wikidata; Q54897302
Entry history
Entry creation05-Mar-2018
Last entry update10-Apr-2025
Version number11