ID   AHQUi001-A-1
AC   CVCL_A1MV
SY   IPS35-2-R
DR   BioSamples; SAMEA7655488
DR   hPSCreg; AHQUi001-A-1
DR   Wikidata; Q102113510
RX   PubMed=33592566;
CC   From: Affiliated Hospital of Qingdao University; Qingdao; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 6677; LPL; Simple_corrected; p.Cys310Arg (c.928T>C); ClinVar=VCV000226449; Zygosity=Heterozygous (PubMed=33592566).
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
HI   CVCL_YK97 ! AHQUi001-A
SX   Male
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 20-05-21; Version: 3
//
RX   PubMed=33592566; DOI=10.1016/j.scr.2021.102230;
RA   Sun X.-F., Zhou X., Dong B.-Z., Wang C., Xiao X.-H., Wang Y.-G.;
RT   "Generation of a gene-corrected isogenic iPSC line (AHQUi001-A-1) from
RT   a patient with familial hypertriglyceridemia (FHTG) carrying a
RT   heterozygous p.C310R (c.928T>C) mutation in LPL gene using
RT   CRISPR/Cas9.";
RL   Stem Cell Res. 52:102230-102230(2021).
//