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Cellosaurus IGGi002-A (CVCL_D0FF)

[Text version]
Cell line name IGGi002-A
Synonyms IGGi002A; hNEC-iPSC-G542X-7
Accession CVCL_D0FF
Resource Identification Initiative To cite this cell line use: IGGi002-A (RRID:CVCL_D0FF)
Comments From: IRCCS Istituto Giannina Gaslini; Genova; Italy.
Population: Caucasian.
Derived from site: In situ; Nose, nasal cavity, epithelium; UBERON=UBERON_0005384.
Cell type: Epithelial cell; CL=CL_0000066.
Sequence variations
  • Mutation; HGNC; 1884; CFTR; Simple; p.Gly542Ter (c.1624G>T); ClinVar=VCV000007115; Zygosity=Homozygous (PubMed=37865062).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 14Y
Category Induced pluripotent stem cell
Publications

PubMed=37865062; DOI=10.1016/j.scr.2023.103232
Debczynski M., Mojsak D., Tamburro S., Baldassari S., Musante I., Casciaro R., Ciciriello F., Zara F., Scudieri P., Gorrieri G.
Generation of an induced pluripotent stem cell line (IGGi002A) from nasal cells of a cystic fibrosis patient homozygous for the G542X-CFTR mutation.
Stem Cell Res. 72:103232-103232(2023)

Cross-references
Cell line databases/resources hPSCreg; IGGi002-A
Biological sample resources BioSamples; SAMEA113585496
Encyclopedic resources Wikidata; Q123032667
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2