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Cellosaurus SCTCi015-A-1 (CVCL_C0FS)

[Text version]
Cell line name SCTCi015-A-1
Synonyms IPS19-00051 clone H6; IPS19-00051 Crispr clone H6
Accession CVCL_C0FS
Resource Identification Initiative To cite this cell line use: SCTCi015-A-1 (RRID:CVCL_C0FS)
Comments From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 5394; CFI; Simple_corrected; p.Gly119Arg (c.355G>A); ClinVar=VCV000066014; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=35526389).
Disease Age-related macular degeneration-13 (NCIt: C187704)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_B5T9 (SCTCi015-A)
Sex of cell Female
Age at sampling 70Y
Category Induced pluripotent stem cell
Publications

PubMed=35526389; DOI=10.1016/j.scr.2022.102796
de Jong S., Koolen L., Vazquez-Dominguez I., de Breuk A., Albert S., Hoyng C.B., Katti S., den Hollander A.I., Garanto A.
Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene.
Stem Cell Res. 62:102796-102796(2022)

Cross-references
Cell line databases/resources hPSCreg; SCTCi015-A-1
Biological sample resources BioSamples; SAMEA11350641
Encyclopedic resources Wikidata; Q112930353
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4