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Cellosaurus RCPFi007-A (CVCL_UF40)

[Text version]
Cell line name RCPFi007-A
Synonyms LCA-FiPS4F1; CIPFi001-A
Accession CVCL_UF40
Resource Identification Initiative To cite this cell line use: RCPFi007-A (RRID:CVCL_UF40)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Principe Felipe Centro de Investigacion; Valencia; Spain.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 359; AIPL1; Simple; p.Cys89Arg (c.265T>C); ClinVar=VCV000574505; Zygosity=Homozygous (PubMed=30366342).
Disease Leber congenital amaurosis (NCIt: C129075)
Leber congenital amaurosis (ORDO: Orphanet_65)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 31Y
Category Induced pluripotent stem cell
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/171/Caracteristicas%20-%20Formulario%20de%20deposito%20LCA-FiPS4F1.pdf
Publications

PubMed=30366342; DOI=10.1016/j.scr.2018.10.012
Lukovic D., Artero Castro A., Leon M., del Buey Furio V., Corton M., Ayuso C., Erceg S.
Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1.
Stem Cell Res. 33:151-155(2018)

Cross-references
Cell line databases/resources hPSCreg; RCPFi007-A
Encyclopedic resources Wikidata; Q93453603
Entry history
Entry creation13-Nov-2018
Last entry update29-Jun-2023
Version number8