ID   SCTCi015-A-1
AC   CVCL_C0FS
SY   IPS19-00051 clone H6; IPS19-00051 Crispr clone H6
DR   BioSamples; SAMEA11350641
DR   hPSCreg; SCTCi015-A-1
DR   Wikidata; Q112930353
RX   PubMed=35526389;
CC   From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:5394; CFI; Simple_corrected; p.Gly119Arg (c.355G>A); ClinVar=VCV000066014; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (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)
HI   CVCL_B5T9 ! SCTCi015-A
SX   Female
AG   70Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=35526389; DOI=10.1016/j.scr.2022.102796;
RA   de Jong, Sarah
RA   Koolen, Louet
RA   Vazquez-Dominguez, Irene
RA   de Breuk, Anita
RA   Albert, Silvia
RA   Hoyng, Carel B.
RA   Katti, Suresh
RA   den Hollander, Anneke I.
RA   Garanto, Alejandro
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).
//