ID   IGGi002-A
AC   CVCL_D0FF
SY   IGGi002A; hNEC-iPSC-G542X-7
DR   BioSamples; SAMEA113585496
DR   hPSCreg; IGGi002-A
DR   Wikidata; Q123032667
RX   PubMed=37865062;
CC   From: IRCCS Istituto Giannina Gaslini; Genova; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Gly542Ter (c.1624G>T); ClinVar=VCV000007115; Zygosity=Homozygous (PubMed=37865062).
CC   Derived from site: In situ; Nose, nasal cavity, epithelium; UBERON=UBERON_0005384.
CC   Cell type: Epithelial cell; CL=CL_0000066.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=37865062; DOI=10.1016/j.scr.2023.103232;
RA   Debczynski M., Mojsak D., Tamburro S., Baldassari S., Musante I.,
RA   Casciaro R., Ciciriello F., Zara F., Scudieri P., Gorrieri G.;
RT   "Generation of an induced pluripotent stem cell line (IGGi002A) from
RT   nasal cells of a cystic fibrosis patient homozygous for the
RT   G542X-CFTR mutation.";
RL   Stem Cell Res. 72:103232-103232(2023).
//