ID   SCTCi014-A-1
AC   CVCL_C0FT
SY   IPS17-00056 clone O5; IPS17-00056 Crispr clone O5
DR   BioSamples; SAMEA11293804
DR   hPSCreg; SCTCi014-A-1
DR   Wikidata; Q112930352
RX   PubMed=35526386;
CC   From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 5394; CFI; Simple_corrected; p.Gly119Arg (c.355G>A); ClinVar=VCV000066014; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=35526386).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C187704; Age-related macular degeneration-13
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_B5TA ! SCTCi014-A
SX   Male
AG   84Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35526386; DOI=10.1016/j.scr.2022.102797;
RA   de Jong S., Koolen L., Vazquez-Dominguez I., de Breuk A., Albert S.,
RA   Hoyng C.B., Katti S., den Hollander A.I., Garanto A.;
RT   "Generation of an iPSC line (SCTCi014-A) and isogenic control line
RT   (SCTCi014-A-1) from an age-related macular degeneration patient
RT   carrying the variant c.355G>A in the CFI gene.";
RL   Stem Cell Res. 62:102797-102797(2022).
//