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Cellosaurus ESi066-A (CVCL_WN56)

[Text version]
Cell line name ESi066-A
Synonyms RP3-FiPS4F1
Accession CVCL_WN56
Resource Identification Initiative To cite this cell line use: ESi066-A (RRID:CVCL_WN56)
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, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:21699; CERKL; Simple; p.Arg283Ter (c.847C>T) (p.Arg257Ter, c.769C>T); ClinVar=VCV000002364; Zygosity=Homozygous (PubMed=31082679).
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 62Y
Category Induced pluripotent stem cell
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/185/Caracteristicas%20-%20Solicitud%20de%20deposito%20RP3-FiPS4F1.pdf
Publications

PubMed=31082679; DOI=10.1016/j.scr.2019.101455
Bolinches-Amoros A., Leon M., del Buey Furio V., Marfany G., Gonzalez-Duarte R., Erceg S., Lukovic D.
Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling.
Stem Cell Res. 38:101455-101455(2019)

Cross-references
Cell line databases/resources hPSCreg; ESi066-A
Encyclopedic resources Wikidata; Q93545375
Entry history
Entry creation24-May-2019
Last entry update19-Dec-2024
Version number10