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Cellosaurus ESi054-A (CVCL_VD44)

[Text version]
Cell line name ESi054-A
Synonyms [AS]FiPS1-Ep6F-2; AS-FiPS1-Ep6F-2; AS FiPS1 Ep6F-2; AS FiPS 1-Ep6F-2; [AS] FiPS 1-Ep6F-2
Accession CVCL_VD44
Resource Identification Initiative To cite this cell line use: ESi054-A (RRID:CVCL_VD44)
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; 2204; COL4A3; Simple; p.Pro116Leufs*37 (c.345delG); ClinVar=VCV000554004; Zygosity=Homozygous (PubMed=29246570).
Disease Alport syndrome (NCIt: C34842)
Alport syndrome (ORDO: Orphanet_63)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 25Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29246570

Markers:
AmelogeninX
CSF1PO10,11
D5S81811,12
D7S8209,10
D13S31712,14
D16S5399,12
D21S1130.2,32.2
TH016,9.3
TPOX10,11
vWA15,16

Run an STR similarity search on this cell line
Web pages https://p-cmrc.cat/wp-content/uploads/2020/06/AS-FiPS-1-Ep6F-2.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/93/Caracteristicas%20-%20Documento_Deposito_Lineas_AS-FiPS-1-Ep6F-2.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/93/Anexo%20-%20Anexo_deposito_AS-FiPS-1-Ep6F-2.pdf
Publications

PubMed=29246570; DOI=10.1016/j.scr.2017.08.021
Kuebler B., Aran B., Miquel-Serra L., Munoz Y., Ars E., Bullich G., Furlano M., Torra R., Marti M., Veiga A., Raya A.
Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS).
Stem Cell Res. 25:1-5(2017)

Cross-references
Cell line databases/resources hPSCreg; ESi054-A
SKIP; SKIP003091
Biological sample resources BioSamples; SAMEA104134610
Encyclopedic resources Wikidata; Q54832812
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number12