ID   CABi003-A
AC   CVCL_WP93
SY   DH05; OF_163/DH05-C16; DH05-C16; AMDdh05-MiPS4F16
DR   BioSamples; SAMEA8172008
DR   hPSCreg; CABi003-A
DR   Wikidata; Q93441239
RX   PubMed=31176916;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/227/Caracteristicas%20-%20AMDdh05-MiPS4F16%20Solicitud%20de%20dep%c3%b3sito.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/227/Anexo%20-%20AMDdh05-MiPS4F16%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; 4883; CFH; Simple; p.Tyr402His (c.1204T>C); ClinVar=VCV000294490; Zygosity=Heterozygous (PubMed=31176916).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): BNLC
ST   Amelogenin: X
ST   CSF1PO: 12,14
ST   D13S317: 8
ST   D16S539: 12
ST   D21S11: 28,30
ST   D5S818: 11,13
ST   D7S820: 10,11
ST   TH01: 8,9
ST   TPOX: 8
ST   vWA: 16,17
DI   NCIt; C174215; Age-related macular degeneration-4
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   81Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 30-01-24; Version: 8
//
RX   PubMed=31176916; DOI=10.1016/j.scr.2019.101473;
RA   Garcia-Delgado A.B., Calado S.M., Valdes-Sanchez L.M.,
RA   Montero-Sanchez A., Ponte-Zuniga B., de la Cerda B.,
RA   Bhattacharya S.S., Diaz-Corrales F.J.;
RT   "Generation of a human iPS cell line (CABi003-A) from a patient with
RT   age-related macular degeneration carrying the CFH Y402H
RT   polymorphism.";
RL   Stem Cell Res. 38:101473-101473(2019).
//