ID   IRFMNi003-A-2
AC   CVCL_WZ55
SY   KO PKD2#36
DR   BioSamples; SAMEA5781292
DR   hPSCreg; IRFMNi003-A-2
DR   Wikidata; Q94323830
RX   PubMed=31830647;
CC   From: Istituto di Ricerche Farmacologiche Mario Negri (IRCCS); Bergamo; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9009; PKD2; Simple_edited; p.Gln85Leufs*119 (c.254_279delAGGCGTGGAGCCGCGATAACCCCGGC); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=31830647).
CC   Sequence variation: Mutation; HGNC; 9009; PKD2; Simple_edited; p.Gly93Alafs*24 (c.276delC); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=31830647).
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: 06-09-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=31830647; DOI=10.1016/j.scr.2019.101667;
RA   Trionfini P., Ciampi O., Romano E., Benigni A., Tomasoni S.;
RT   "Generation of two isogenic knockout PKD2 iPS cell lines,
RT   IRFMNi003-A-1 and IRFMNi003-A-2, using CRISPR/Cas9 technology.";
RL   Stem Cell Res. 42:101667-101667(2020).
//