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Cellosaurus ESi055-A (CVCL_VE11)

[Text version]
Cell line name ESi055-A
Synonyms [AS]FiPS2-Ep6F-28; AS-FiPS2-Ep6F-28; AS FiPS2 Ep6F-28; AS FiPS 2-Ep6F-28; [AS] FiPS 2-Ep6F-28
Accession CVCL_VE11
Resource Identification Initiative To cite this cell line use: ESi055-A (RRID:CVCL_VE11)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Centro de Medecina Regenerativa de Barcelona (CMRB); Barcelona; Spain.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 2207; COL4A5; Simple; p.Gly1241Asp (c.3722G>A); ClinVar=VCV000934057; Zygosity=Hemizygous (PubMed=29150092).
Disease Alport syndrome (NCIt: C34842)
Alport syndrome (ORDO: Orphanet_63)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 25Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29150092

Markers:
AmelogeninX,Y
CSF1PO11
D5S81811,13
D7S82012
D13S3178,12
D16S53911
D21S1128,29
TH016,9.3
TPOX9,12.5
vWA15,18

Run an STR similarity search on this cell line
Web pages https://p-cmrc.cat/wp-content/uploads/2020/06/AS-FiPS-2-Ep6F-28.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/94/Caracteristicas%20-%20Documento_Deposito_Lineas_AS-FiPS-2-Ep6F-28.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/94/Anexo%20-%20Anexo_deposito_AS-FiPS-2-Ep6F-28.pdf
Publications

PubMed=29150092; DOI=10.1016/j.scr.2017.08.019
Kuebler B., Aran B., Miquel-Serra L., Munoz Y., Ars E., Bullich G., Furlano M., Torra R., Marti M., Veiga A., Raya A.
Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS).
Stem Cell Res. 25:291-295(2017)

Cross-references
Cell line databases/resources hPSCreg; ESi055-A
Biological sample resources BioSamples; SAMEA104134630
Encyclopedic resources Wikidata; Q54832813
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number11