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Cellosaurus SCTCi012-A (CVCL_A2YG)

[Text version]
Cell line name SCTCi012-A
Synonyms IPS19-00027; SCTCi005-A
Accession CVCL_A2YG
Resource Identification Initiative To cite this cell line use: SCTCi012-A (RRID:CVCL_A2YG)
Comments From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands.
Population: Caucasian.
Omics: Variations; Array-based CGH.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4883; CFH; Simple; p.Ile184Leufs*33 (c.550delA); Zygosity=Heterozygous (PubMed=35063911).
Disease Age-related macular degeneration-4 (NCIt: C174215)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 71Y
Category Induced pluripotent stem cell
Publications

PubMed=35063911; DOI=10.1016/j.scr.2022.102669
Louet Koolen, Giuliana Gagliardi, Sofie C.A. ten Brink, Anita de Breuk, Thomas Johannes Heesterbeek, Carel B. Hoyng, Silvia Albert, Anneke I. den Hollander;
Generation and characterization of human induced pluripotent stem cells (iPSCs) from three patients with age-related macular degeneration carrying rare variants in the CFH gene.
Stem Cell Res. 60:102669-102669(2022)

Cross-references
Cell line databases/resources hPSCreg; SCTCi012-A
Biological sample resources BioSamples; SAMEA7851600
Encyclopedic resources Wikidata; Q105511005
Entry history
Entry creation12-Jan-2021
Last entry update10-Apr-2025
Version number7