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Cellosaurus ICCSICi004-A (CVCL_UN10)

[Text version]
Cell line name ICCSICi004-A
Synonyms IC-PD4-F-iPS-4F-1
Accession CVCL_UN10
Resource Identification Initiative To cite this cell line use: ICCSICi004-A (RRID:CVCL_UN10)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Instituto Cajal; Madrid; Spain.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (PubMed=31203165).
Disease Parkinson's disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 52Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX,Y
CSF1PO11,13
D5S81811
D7S8208,10
D13S31710,12
D16S5399,12
D21S1129,33.2
TH019.3
TPOX8
vWA14,16

Run an STR similarity search on this cell line
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/127/Caracteristicas%20-%20Documento_Deposito_Lineas_iPS_IC-PD4-F-iPS-4F-1-v2.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/127/Anexo%20-%20Anexos-IC-PD4-F-iPS-4F-1-v2.pdf
Publications

PubMed=31203165; DOI=10.1016/j.scr.2019.101482
Rodriguez-Traver E., Diaz-Guerra E., Rodriguez C., Fernandez P., Arenas F., Arauzo-Bravo M.J., Orera M., Kulisevsky J., Moratalla R., Vicario-Abejon C.
A collection of integration-free iPSCs derived from Parkinson's disease patients carrying mutations in the GBA1 gene.
Stem Cell Res. 38:101482-101482(2019)

Cross-references
Cell line databases/resources hPSCreg; ICCSICi004-A
Encyclopedic resources Wikidata; Q94313335
Entry history
Entry creation25-Feb-2019
Last entry update30-Jan-2024
Version number12