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Cellosaurus ESi056-A (CVCL_VD43)

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Cell line name ESi056-A
Synonyms [AS]FiPS3-Ep6F-9; AS-FiPS3-Ep6F-9; AS FiPS3 Ep6F-9; AS FiPS 3-Ep6F-9; [AS] FiPS 3-Ep6F-9
Accession CVCL_VD43
Resource Identification Initiative To cite this cell line use: ESi056-A (RRID:CVCL_VD43)
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; HGNC:2207; COL4A5; Simple; p.Gly1351Asp (c.4052G>A); 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 43Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29150092

Markers:
AmelogeninX,Y
CSF1PO12,13
D5S81812,13
D7S8209,12
D13S31712,13
D16S53911
D21S1128,29
TH019.3
TPOX8,12.5
vWA17,18

Run an STR similarity search on this cell line
Web pages Info; P-CMR[C]; -; https://p-cmrc.cat/wp-content/uploads/2020/06/AS-FiPS-3-Ep6F-9.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Documento_Deposito_Lineas_AS-FiPS-3-Ep6F-9.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo_deposito_AS-FiPS-3-Ep6F-9.pdf
Publications

PubMed=29150092; DOI=10.1016/j.scr.2017.08.019
Bernd Kuebler, Begona Aran, Laia Miquel-Serra, Yolanda Munoz, Elisabet Ars, Gemma Bullich, Monica Furlano, Roser Torra, Merce Marti, Anna Veiga, Angel Raya;
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; ESi056-A
Biological sample resources BioSamples; SAMEA104134950
Encyclopedic resources Wikidata; Q54832814
Entry history
Entry creation14-May-2018
Last entry update10-Apr-2025
Version number13