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Cellosaurus RCPFi003-A (CVCL_UL77)

[Text version]

Cell line name RCPFi003-A
Synonyms RP1-FiPS4F1
Accession CVCL_UL77
Resource Identification Initiative To cite this cell line use: RCPFi003-A (RRID:CVCL_UL77)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Principe Felipe Centro de Investigacion; Valencia; Spain.
Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 7027; MERTK; Simple; p.Ser331Cysfs*5 (c.992_993delCA); Zygosity=Homozygous (PubMed=26263531).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_UL78 (RCPFi003-A-1 )CVCL_UL79 (RCPFi003-A-2 )
Sex of cell Male
Age at sampling 45Y
Category Induced pluripotent stem cell
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/64/Caracteristicas%20-%20Solicitud_Deposito__RP1-FiPS4F1.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/64/Anexo%20-%20Anexos_RP1-FiPS4F1.pdf
Publications

PubMed=26263531; DOI=10.1038/srep12910
Lukovic D., Artero Castro A., Garcia-Delgado A.B., de los Angeles Martin Bernal M., Luna Pelaez N., Diez-Lloret A., Perez Espejo R., Kamenarova K., Fernandez-Sanchez L., Cuenca N., Corton M., Avila-Fernandez A., Sorkio A., Skottman H., Ayuso C., Erceg S., Bhattacharya S.S.
Human iPSC derived disease model of MERTK-associated retinitis pigmentosa.
Sci. Rep. 5:12910-12910(2015)

PubMed=30612079; DOI=10.1016/j.scr.2018.11.003
Artero Castro A., Long K., Bassett A., Machuca C., Leon M., Avila-Fernandez A., Corton M., Vidal-Puig T., Ayuso C., Lukovic D., Erceg S.
Generation of gene-corrected human induced pluripotent stem cell lines derived from retinitis pigmentosa patient with Ser331Cysfs*5 mutation in MERTK.
Stem Cell Res. 34:101341-101341(2019)

Cross-references
Cell line databases/resources hPSCreg; RCPFi003-A
Encyclopedic resources Wikidata; Q98128878
Entry history
Entry creation25-Feb-2019
Last entry update17-Mar-2022
Version number7