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Cellosaurus RCPFi003-A-1 (CVCL_UL78)

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Cell line name RCPFi003-A-1
Synonyms RP1-FiPS4F1-GC1
Accession CVCL_UL78
Resource Identification Initiative To cite this cell line use: RCPFi003-A-1 (RRID:CVCL_UL78)
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; HGNC:7027; MERTK; Simple; p.Ser331Cysfs*5 (c.992_993delCA); ClinVar=VCV000801735; Zygosity=Heterozygous (PubMed=30612079).
  • Mutation; HGNC; HGNC:7027; MERTK; Simple_corrected; p.Ser331Cysfs*5 (c.992_993delCA); ClinVar=VCV000801735; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=30612079).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_UL77 (RCPFi003-A)
Sex of cell Male
Age at sampling 45Y
Category Induced pluripotent stem cell
Web pages Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+RP1-FiPS4F1-GC1+Solicitud+de+dep%C3%B3sito-v2.pdf
Publications

PubMed=30612079; DOI=10.1016/j.scr.2018.11.003
Ana Artero Castro, Kathleen Long, Andrew Bassett, Candela Machuca-Arellano, Marian Leon, Almudena Avila-Fernandez, Marta Corton, Toni Vidal-Puig, Carmen Ayuso, Dunja Lukovic, Slaven Erceg;
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-1
Encyclopedic resources Wikidata; Q98128879
Entry history
Entry creation25-Feb-2019
Last entry update10-Apr-2025
Version number11