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Cellosaurus RCPFi001-A (CVCL_QX62)

[Text version]
Cell line name RCPFi001-A
Synonyms RP2-FiPS4F1
Accession CVCL_QX62
Resource Identification Initiative To cite this cell line use: RCPFi001-A (RRID:CVCL_QX62)
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; 17340; PRPF8; Simple; p.Val2325_Glu2331del (c.6974_6994del21); ClinVar=VCV000916436; Zygosity=Heterozygous (PubMed=28677533).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 42Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=28677533

Markers:
AmelogeninX
CSF1PO11,13
D5S81811,12
D7S8209,10
D13S31711,14
D16S53913
D21S1129,31
TH019.3
TPOX8,12
vWA16,17

Run an STR similarity search on this cell line
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/115/Caracteristicas%20-%20RP2-FiPS4F1%20Solicitud%20deposito.pdf
Publications

PubMed=28677533; DOI=10.1016/j.scr.2017.03.007
Lukovic D., Bolinches-Amoros A., Artero Castro A., Pascual B., Carballo M., Hernan I., Erceg S.
Generation of a human iPSC line from a patient with retinitis pigmentosa caused by mutation in PRPF8 gene.
Stem Cell Res. 21:23-25(2017)

Cross-references
Cell line databases/resources hPSCreg; RCPFi001-A
SKIP; SKIP003170
Encyclopedic resources Wikidata; Q54949521
Entry history
Entry creation15-Nov-2017
Last entry update29-Jun-2023
Version number13