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Cellosaurus IRFMNi003-A-3 (CVCL_A9YN)

[Text version]
Cell line name IRFMNi003-A-3
Synonyms KO PKD1#16
Accession CVCL_A9YN
Resource Identification Initiative To cite this cell line use: IRFMNi003-A-3 (RRID:CVCL_A9YN)
Comments From: Istituto di Ricerche Farmacologiche Mario Negri (IRCCS); Bergamo; Italy.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 9008; PKD1; Simple_edited; p.Pro3582Glyfs*44 (c.10744_10745delCC); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32592954).
Disease Autosomal dominant polycystic kidney disease (NCIt: C84578)
Autosomal dominant polycystic kidney disease (ORDO: Orphanet_730)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_WU24 (IRFMNi003-A)
Sex of cell Female
Age at sampling 32Y
Category Induced pluripotent stem cell
Publications

PubMed=32592954; DOI=10.1016/j.scr.2020.101881
Romano E., Trionfini P., Ciampi O., Benigni A., Tomasoni S.
Generation of PKD1 mono-allelic and bi-allelic knockout iPS cell lines using CRISPR-Cas9 system.
Stem Cell Res. 47:101881-101881(2020)

Cross-references
Cell line databases/resources hPSCreg; IRFMNi003-A-3
Biological sample resources BioSamples; SAMEA6447332
Encyclopedic resources Wikidata; Q102114247
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number5