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Cellosaurus RCPFi003-A-1 (CVCL_UL78)

[Text version]
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; 7027; MERTK; Simple; p.Ser331Cysfs*5 (c.992_993delCA); ClinVar=VCV000801735; Zygosity=Heterozygous (PubMed=30612079).
  • Mutation; 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
Publications

PubMed=30612079; DOI=10.1016/j.scr.2018.11.003
Artero Castro A., Long K., Bassett A., Machuca-Arellano 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-1
Encyclopedic resources Wikidata; Q98128879
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number9