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Cellosaurus ESi063-A (CVCL_VP83)

[Text version]

Cell line name ESi063-A
Synonyms ARS-FiPS4F1
Accession CVCL_VP83
Resource Identification Initiative To cite this cell line use: ESi063-A (RRID:CVCL_VP83)
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; dermis. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 10519; SACS; Simple; p.Gln3313Glyfs*11 (c.9938delC); Zygosity=Heterozygous (PubMed=30144656).
  • Mutation; HGNC; 10519; SACS; Simple; p.Arg3792Ter (c.11374C>T); ClinVar=VCV000370283; Zygosity=Heterozygous (PubMed=30144656).
Disease Autosomal recessive spastic ataxia of Charlevoix-Saguenay (NCIt: C154614)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ORDO: Orphanet_98)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 14Y
Category Induced pluripotent stem cell
STR profile Source(s): Spanish_Stem_Cell_Bank

Markers:
AmelogeninX,Y
CSF1PO11,13
D5S81811
D7S82010,12
D13S31711,12
D16S53911,13
D21S1128,29
TH016,7
TPOX8,11
vWA17,19

Run an STR similarity search on this cell line
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/173/Caracteristicas%20-%20Formulario%20de%20deposito%20ARS-FiPS4F1.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/173/Anexo%20-%20Anexo%20ARS-FiPS4F1-V2.pdf
Publications

PubMed=30144656; DOI=10.1016/j.scr.2018.07.012
Arellano C.M., Vilches A., Clemente E., Pascual-Pascual S.I., Bolinches-Amoros A., Castro A.A., Espinos C., Rodriguez M.L., Jendelova P., Erceg S.
Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene.
Stem Cell Res. 31:249-252(2018)

Cross-references
Cell line databases/resources hPSCreg; ESi063-A
Encyclopedic resources Wikidata; Q93545354
Entry history
Entry creation07-Sep-2018
Last entry update17-Mar-2022
Version number9