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Cellosaurus SCTCi011-A (CVCL_A2YF)

[Text version]
Cell line name SCTCi011-A
Synonyms IPS18-00072; SCTCi004-A
Accession CVCL_A2YF
Resource Identification Initiative To cite this cell line use: SCTCi011-A (RRID:CVCL_A2YF)
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.Lys204Thrfs*26 (c.607_610dupCCAA); Zygosity=Heterozygous (PubMed=35063911).
Disease Age-related macular degeneration-4 (NCIt: C174215)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 60Y
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; SCTCi011-A
Biological sample resources BioSamples; SAMEA7807651
Encyclopedic resources Wikidata; Q105511004
Entry history
Entry creation12-Jan-2021
Last entry update10-Apr-2025
Version number7