ID   CABi002-A
AC   CVCL_UJ72
SY   OF0176-EYS02-C7; EYS02-MiPS4F7
DR   BioSamples; SAMEA8268542
DR   hPSCreg; CABi002-A
DR   Wikidata; Q93441237
RX   PubMed=30471616;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/225/Caracteristicas%20-%20EYS02-MiPS4F7%20Solicitud%20de%20dep%c3%b3sito-v2.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/225/Anexo%20-%20EYS02-MiPS4F7%20Anexo.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Centro Andaluz de Biologia Molecular y Medicina Regenerativa (CABIMER); Sevilla; Spain.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 21555; EYS; Simple; p.Gly1190Aspfs*39 (c.3567delA); ClinVar=VCV001065732; Zygosity=Heterozygous (PubMed=30471616).
CC   Sequence variation: Mutation; HGNC; 21555; EYS; Simple; p.Ser1610Phefs*7 (c.4829_4832delCATT); ClinVar=VCV000289905; Zygosity=Heterozygous (PubMed=30471616).
CC   Derived from sampling site: Peripheral blood.
ST   Source(s): Spanish_Stem_Cell_Bank
ST   Amelogenin: X,Y
ST   CSF1PO: 11
ST   D13S317: 8,11
ST   D16S539: 12
ST   D21S11: 30.2,31.2
ST   D5S818: 11,12
ST   D7S820: 8,11
ST   TH01: 6,7
ST   TPOX: 8,11
ST   vWA: 13,15
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 23-06-22; Version: 8
//
RX   PubMed=30471616; DOI=10.1016/j.scr.2018.11.002;
RA   Calado S.M., Garcia-Delgado A.B., De la Cerda B., Ponte-Zuniga B.,
RA   Bhattacharya S.S., Diaz-Corrales F.J.;
RT   "Generation of a human iPS cell line from a patient with retinitis
RT   pigmentosa due to EYS mutation.";
RL   Stem Cell Res. 33:251-254(2018).
//