ID   SCTCi012-A
AC   CVCL_A2YG
SY   IPS19-00027; SCTCi005-A
DR   BioSamples; SAMEA7851600
DR   hPSCreg; SCTCi012-A
DR   Wikidata; Q105511005
RX   PubMed=35063911;
CC   From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4883; CFH; Simple; p.Ile184Leufs*33 (c.550delA); Zygosity=Heterozygous (PubMed=35063911).
CC   Omics: Array-based CGH.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C174215; Age-related macular degeneration-4
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   71Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=35063911; DOI=10.1016/j.scr.2022.102669;
RA   Koolen L., Gagliardi G., ten Brink S.C.A., de Breuk A.,
RA   Heesterbeek T.J., Hoyng C.B., Albert S., den Hollander A.I.;
RT   "Generation and characterization of human induced pluripotent stem
RT   cells (iPSCs) from three patients with age-related macular
RT   degeneration carrying rare variants in the CFH gene.";
RL   Stem Cell Res. 60:102669-102669(2022).
//