ID   PLAFMCi005-A
AC   CVCL_A0ZS
DR   Wikidata; Q108821138
RX   PubMed=34359001;
CC   From: Chinese PLA General Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:11630; HNF1B; Simple; c.544+3_544+6delAAGT; ClinVar=VCV000635668; Zygosity=Heterozygous (PubMed=34359001).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C123018; Renal cysts and diabetes syndrome
DI   ORDO; Orphanet_93111; HNF1B-related autosomal dominant tubulointerstitial kidney disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=34359001; DOI=10.1016/j.scr.2021.102485;
RA   Cui S.-Y., Shang S.-L., Duan S.-W., Wu L.-L., Fu B., Bai X.-Y.,
RA   Li Q.-G., Chen X.-M.;
RT   "Establishment of PLAFMCi005-A induced pluripotent stem cells derived
RT   from PBMC from a patient with renal cysts and diabetes syndrome.";
RL   Stem Cell Res. 55:102485-102485(2021).
//