ID   RCPFi003-A-1
AC   CVCL_UL78
SY   RP1-FiPS4F1-GC1
DR   hPSCreg; RCPFi003-A-1
DR   Wikidata; Q98128879
RX   PubMed=30612079;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+RP1-FiPS4F1-GC1+Solicitud+de+dep%C3%B3sito-v2.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Principe Felipe Centro de Investigacion; Valencia; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:7027; MERTK; Simple; p.Ser331Cysfs*5 (c.992_993delCA); ClinVar=VCV000801735; Zygosity=Heterozygous (PubMed=30612079).
CC   Sequence variation: Mutation; HGNC; HGNC:7027; MERTK; Simple_corrected; p.Ser331Cysfs*5 (c.992_993delCA); ClinVar=VCV000801735; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=30612079).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_UL77 ! RCPFi003-A
SX   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 10-04-25; Version: 11
//
RX   PubMed=30612079; DOI=10.1016/j.scr.2018.11.003;
RA   Artero Castro, Ana
RA   Long, Kathleen
RA   Bassett, Andrew
RA   Machuca-Arellano, Candela
RA   Leon, Marian
RA   Avila-Fernandez, Almudena
RA   Corton, Marta
RA   Vidal-Puig, Antonio
RA   Ayuso, Carmen
RA   Lukovic, Dunja
RA   Erceg, Slaven
RT   "Generation of gene-corrected human induced pluripotent stem cell
RT   lines derived from retinitis pigmentosa patient with Ser331Cysfs*5
RT   mutation in MERTK.";
RL   Stem Cell Res. 34:101341-101341(2019).
//