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Cellosaurus SCTCi013-A (CVCL_A2YH)

[Text version]
Cell line name SCTCi013-A
Synonyms IPS19-00053; SCTCi006-A
Accession CVCL_A2YH
Resource Identification Initiative To cite this cell line use: SCTCi013-A (RRID:CVCL_A2YH)
Comments From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands.
Population: Caucasian.
Omics: Array-based CGH.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4883; CFH; Simple; p.Arg175Gln (c.524G>A); 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 76Y
Category Induced pluripotent stem cell
Publications

PubMed=35063911; DOI=10.1016/j.scr.2022.102669
Koolen L., Gagliardi G., ten Brink S.C.A., de Breuk A., Heesterbeek T.J., Hoyng C.B., Albert S., den Hollander A.I.
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; SCTCi013-A
Biological sample resources BioSamples; SAMEA7851607
Encyclopedic resources Wikidata; Q105511008
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6