ID   ESi082-A
AC   CVCL_A1ZA
SY   CRB1-MiPS4F1
DR   BioSamples; SAMEA8028721
DR   hPSCreg; ESi082-A
DR   Wikidata; Q105506852
RX   PubMed=33773389;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+CRB1-MiPS4F1-Solicitud+de+dep%C3%B3sito-v3.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/CRB1-MiPS4F1-Anexo-v3.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2343; CRB1; Simple; p.Ile167_Gly169del (c.498_506delAATTGATGG); ClinVar=VCV000096659; Zygosity=Heterozygous (PubMed=33773389).
CC   Sequence variation: Mutation; HGNC; HGNC:2343; CRB1; Simple; p.Ile205Aspfs*13 (c.613_619delATAGGAA); ClinVar=VCV000099913; Zygosity=Heterozygous (PubMed=33773389).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): BNLC
ST   Amelogenin: X,Y
ST   CSF1PO: 10,11
ST   D13S317: 12,13
ST   D16S539: 12
ST   D21S11: 28,31
ST   D5S818: 11,12
ST   D7S820: 8,9
ST   TH01: 6,9
ST   TPOX: 8
ST   vWA: 16,18
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 10-04-25; Version: 6
//
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 Haynes 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).
//