ID   SCVIi108-A
AC   CVCL_D6LQ
SY   SCVI-2767; SCVI 2767; SCVI2767
DR   BioSamples; SAMEA115395164
DR   hPSCreg; SCVIi108-A
DR   Wikidata; Q127384239
RX   PubMed=38852422;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Native South American.
CC   Sequence variation: Mutation; HGNC; HGNC:6547; LDLR; Simple; p.His211Tyr (c.631C>T); ClinVar=VCV000251335; Zygosity=Heterozygous (PubMed=38852422).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C123416; Hyperlipoproteinemia, type IIa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   54Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=38852422; DOI=10.1016/j.scr.2024.103463; PMCID=PMC11532021;
RA   Gao J.-S., Li J., Xu L.-Y., Yan C.D., Knowles J.W., Wu J.C.;
RT   "Generation of two familial hypercholesterolemia patient-specific
RT   induced pluripotent stem cell lines harboring heterozygous mutations
RT   in the LDLR gene.";
RL   Stem Cell Res. 78:103463-103463(2024).
//