ID   RCPFi003-A
AC   CVCL_UL77
SY   RP1-FiPS4F1
DR   hPSCreg; RCPFi003-A
DR   Wikidata; Q98128878
RX   PubMed=26263531;
RX   PubMed=30612079;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/64/Caracteristicas%20-%20Solicitud_Deposito__RP1-FiPS4F1.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/64/Anexo%20-%20Anexos_RP1-FiPS4F1.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; 7027; MERTK; Simple; p.Ser331Cysfs*5 (c.992_993delCA); ClinVar=VCV000801735; Zygosity=Homozygous (PubMed=26263531).
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)
SX   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 10
//
RX   PubMed=26263531; DOI=10.1038/srep12910;
RA   Lukovic D., Artero Castro A., Garcia-Delgado A.B.,
RA   de los Angeles Martin Bernal M., Luna Pelaez N., Diez-Lloret A.,
RA   Perez Espejo R., Kamenarova K., Fernandez-Sanchez L., Cuenca-Navarro N.,
RA   Corton M., Avila-Fernandez A., Sorkio A., Skottman H., Ayuso C.,
RA   Erceg S., Bhattacharya S.S.;
RT   "Human iPSC derived disease model of MERTK-associated retinitis
RT   pigmentosa.";
RL   Sci. Rep. 5:12910-12910(2015).
//
RX   PubMed=30612079; DOI=10.1016/j.scr.2018.11.003;
RA   Artero Castro A., Long K., Bassett A., Machuca C., Leon M.,
RA   Avila-Fernandez A., Corton M., Vidal-Puig T., Ayuso C., Lukovic D.,
RA   Erceg S.;
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).
//