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Cellosaurus CABi002-A (CVCL_UJ72)

[Text version]

Cell line name CABi002-A
Synonyms OF0176-EYS02-C7; EYS02-MiPS4F7
Accession CVCL_UJ72
Resource Identification Initiative To cite this cell line use: CABi002-A (RRID:CVCL_UJ72)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Centro Andaluz de Biologia Molecular y Medicina Regenerativa (CABIMER); Sevilla; Spain.
Population: Caucasian.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 21555; EYS; Simple; p.Gly1190Aspfs*39 (c.3567delA); Zygosity=Heterozygous (PubMed=30471616).
Mutation; HGNC; 21555; EYS; Simple; p.Ser1610Phefs*7 (c.4829_4832delCATT); Zygosity=Heterozygous (PubMed=30471616).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 38Y
Category Induced pluripotent stem cell
STR profile Source(s): Spanish_Stem_Cell_Bank

Markers:
AmelogeninX,Y
CSF1PO11
D5S81811,12
D7S8208,11
D13S3178,11
D16S53912
D21S1130.2,31.2
TH016,7
TPOX8,11
vWA13,15

Run an STR similarity search on this cell line
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/225/Caracteristicas%20-%20EYS02-MiPS4F7%20Solicitud%20de%20dep%c3%b3sito-v2.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/225/Anexo%20-%20EYS02-MiPS4F7%20Anexo.pdf
Publications

PubMed=30471616; DOI=10.1016/j.scr.2018.11.002
Calado S.M., Garcia-Delgado A.B., De la Cerda B., Ponte-Zuniga B., Bhattacharya S.S., Diaz-Corrales F.J.
Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation.
Stem Cell Res. 33:251-254(2018)

Cross-references
Cell line databases/resources hPSCreg; CABi002-A
Biological sample resources BioSamples; SAMEA8268542
Other Wikidata; Q93441237
Entry history
Entry creation25-Feb-2019
Last entry update23-Sep-2021
Version number7