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; HGNC:4883; CFH; Simple; p.Ile184Leufs*33 (c.550delA); Zygosity=Heterozygous (PubMed=35063911).
CC   Omics: Variations; 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: 10-04-25; Version: 7
//
RX   PubMed=35063911; DOI=10.1016/j.scr.2022.102669;
RA   Koolen, Louet
RA   Gagliardi, Giuliana
RA   ten Brink, Sofie C.A.
RA   de Breuk, Anita
RA   Heesterbeek, Thomas Johannes
RA   Hoyng, Carel B.
RA   Albert, Silvia
RA   den Hollander, Anneke 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).
//