ID   CPGHi008-A
AC   CVCL_B7DP
DR   BioSamples; SAMEA12599200
DR   hPSCreg; CPGHi008-A
DR   Wikidata; Q112929416
RX   PubMed=35405383;
CC   From: Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 9016; PKHD1; Simple; p.Leu2665Pro (c.7994T>C); ClinVar=VCV002152014; Zygosity=Homozygous (PubMed=35405383).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84579; Autosomal recessive polycystic kidney disease
DI   ORDO; Orphanet_731; Autosomal recessive polycystic kidney disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   21Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35405383; DOI=10.1016/j.scr.2022.102772;
RA   Sun M.-Y., Li J., Shang S.-L., Bai X.-Y., Cai G.-Y., Li Q.-G.;
RT   "Generation of induced pluripotent stem cells from peripheral blood
RT   mononuclear cells obtained from an adult with autosomal recessive
RT   polycystic kidney disease.";
RL   Stem Cell Res. 61:102772-102772(2022).
//