ID   AHQUi001-A
SY   IPS35-2
DR   BioSamples; SAMEA6516971
DR   hPSCreg; AHQUi001-A
DR   SKIP; SKIP005782
DR   Wikidata; Q93323833
RX   PubMed=32353702;
CC   From: Affiliated Hospital of Qingdao University; Qingdao; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 6677; LPL; Simple; p.Cys310Arg (c.928T>C); ClinVar=VCV000226449; Zygosity=Heterozygous (PubMed=32353702).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C84771; Hyperlipoproteinemia, type I
DI   ORDO; Orphanet_309015; Familial lipoprotein lipase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 20-05-21; Version: 5
RX   PubMed=32353702; DOI=10.1016/j.scr.2020.101802;
RA   Sun X.-F., Zhou X., Xiao X.-H., Chi J.-W., Dong B.-Z., Wang Y.-G.;
RT   "Generation of the induced pluripotent stem cell(iPSC) line
RT   (AHQUi001-A) from a patient with familial hypertriglyceridemia (FHTG)
RT   carrying a heterozygous p.C310R (c.928 T > C) mutation in LPL gene.";
RL   Stem Cell Res. 45:101802-101802(2020).