ID   RCPFi003-A-1
AC   CVCL_UL78
SY   RP1-FiPS4F1-GC1
DR   hPSCreg; RCPFi003-A-1
DR   Wikidata; Q98128879
RX   PubMed=30612079;
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=Heterozygous (PubMed=30612079).
CC   Sequence variation: Mutation; 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: 29-06-23; Version: 9
//
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).
//