ID   PLAFMCi003-A
AC   CVCL_A4XI
DR   Wikidata; Q107116664
RX   PubMed=33485185;
CC   From: Chinese PLA General Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Gene deletion; HGNC; HGNC:9008; PKD1; Zygosity=Heterozygous (PubMed=33485185).
CC   Sequence variation: Gene deletion; HGNC; HGNC:12363; TSC2; Zygosity=Heterozygous (PubMed=33485185).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C177539; Polycystic kidney disease, infantile severe, with tuberous sclerosis
DI   ORDO; Orphanet_88924; Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=33485185; DOI=10.1016/j.scr.2021.102181;
RA   Li J., Shang S.-L., Wang T., Fu B., Wang P., Cai G.-Y., Chen X.-M.,
RA   Li Q.-G.;
RT   "Generation of iPSC from peripheral blood mononuclear cells obtained
RT   from a patient with TSC2-PKD1 contiguous gene deletion syndrome.";
RL   Stem Cell Res. 51:102181-102181(2021).
//