ID   IRFMNi003-A-3
AC   CVCL_A9YN
SY   KO PKD1#16
DR   BioSamples; SAMEA6447332
DR   hPSCreg; IRFMNi003-A-3
DR   Wikidata; Q102114247
RX   PubMed=32592954;
CC   From: Istituto di Ricerche Farmacologiche Mario Negri (IRCCS); Bergamo; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9008; PKD1; Simple_edited; p.Pro3582Glyfs*44 (c.10744_10745delCC); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32592954).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84578; Autosomal dominant polycystic kidney disease
DI   ORDO; Orphanet_730; Autosomal dominant polycystic kidney disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_WU24 ! IRFMNi003-A
SX   Female
AG   32Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 6
//
RX   PubMed=32592954; DOI=10.1016/j.scr.2020.101881;
RA   Romano E., Trionfini P., Ciampi O., Benigni A., Tomasoni S.;
RT   "Generation of PKD1 mono-allelic and bi-allelic knockout iPS cell
RT   lines using CRISPR-Cas9 system.";
RL   Stem Cell Res. 47:101881-101881(2020).
//