ID   SCTCi015-A
SY   IPS19-00051 clone 3
DR   BioSamples; SAMEA11357064
DR   hPSCreg; SCTCi015-A
DR   Wikidata; Q112044520
RX   PubMed=35526389;
CC   From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 5394; CFI; Simple; p.Gly119Arg (c.355G>A); ClinVar=VCV000066014; Zygosity=Heterozygous (PubMed=35526389).
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)
SX   Female
AG   70Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 4
RX   PubMed=35526389; DOI=10.1016/j.scr.2022.102796;
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 (SCTCi015-A) and isogenic control line
RT   (SCTCi015-A-1) from an age-related macular degeneration patient
RT   carrying the variant c.355G>A in the CFI gene.";
RL   Stem Cell Res. 62:102796-102796(2022).