ID   ESi082-A
DR   BioSamples; SAMEA8028721
DR   hPSCreg; ESi082-A
DR   Wikidata; Q105506852
RX   PubMed=33773389;
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2343; CRB1; Simple; p.Ile205Aspfs*13 (c.613_619delATAGGAA); ClinVar=VCV000099913; Zygosity=Heterozygous (PubMed=33773389).
CC   Sequence variation: Mutation; HGNC; 2343; CRB1; Simple; p.Ile167_Gly169del (c.498_506delAATTGATGG); ClinVar=VCV000096659; Zygosity=Heterozygous (PubMed=33773389).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 20-05-21; Version: 2
RX   PubMed=33773389; DOI=10.1016/j.scr.2021.102301;
RA   Canibano-Hernandez A., Valdes-Sanchez L.M., Garcia-Delgado A.B.,
RA   Ponte-Zuniga B., Diaz-Corrales F.J., de la Cerda B.;
RT   "Generation of the human iPSC line ESi082-A from a patient with
RT   macular dystrophy associated to mutations in the CRB1 gene.";
RL   Stem Cell Res. 53:102301-102301(2021).