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Cellosaurus ESi064-A (CVCL_UG20)

[Text version]

Cell line name ESi064-A
Synonyms CARS-FiPS4F1
Accession CVCL_UG20
Resource Identification Initiative To cite this cell line use: ESi064-A (RRID:CVCL_UG20)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Principe Felipe Centro de Investigacion; Valencia; Spain.
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 10519; SACS; Simple; p.Arg3792Ter (c.11374C>T); ClinVar=VCV000370283; Zygosity=Heterozygous (PubMed=30384130).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 29Y
Category Induced pluripotent stem cell
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/172/Caracteristicas%20-%20Formulario%20de%20deposito%20CARS-FiPS4F1.pdf
Publications

PubMed=30384130; DOI=10.1016/j.scr.2018.10.016
Machuca C., Vilches A., Clemente E., Pascual-Pascual S.I., Bolinches-Amoros A., Artero Castro A., Espinos C., Leon M., Jendelova P., Erceg S.
Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene.
Stem Cell Res. 33:166-170(2018)

Cross-references
Cell line databases/resources hPSCreg; ESi064-A
Encyclopedic resources Wikidata; Q93545359
Entry history
Entry creation13-Nov-2018
Last entry update17-Mar-2022
Version number7