ID   SMBCi009-A
SY   FH-C3
DR   BioSamples; SAMEA7710160
DR   hPSCreg; SMBCi009-A
DR   Wikidata; Q105511103
RX   PubMed=34974203;
CC   From: Shandong Medical Biotechnological Center; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 6547; LDLR; Simple; p.His583Tyr (c.1747C>T); ClinVar=VCV000200921; Zygosity=Heterozygous (PubMed=34974203).
CC   Sequence variation: Mutation; HGNC; 6547; LDLR; Simple; p.Glu650Argfs*15 (c.1948delG); Zygosity=Heterozygous (PubMed=34974203).
CC   Derived from sampling site: Urine.
DI   NCIt; C123416; Hyperlipoproteinemia, type IIa
DI   ORDO; Orphanet_391665; Homozygous familial hypercholesterolemia
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 17-03-22; Version: 4
RX   PubMed=34974203; DOI=10.1016/j.scr.2021.102624;
RA   Qi Z.-J., Cui Y.-Z., Shi L., Wang J., Zhao Q.-Y., Luan J., Han J.-X.;
RT   "Generation of a non-integrated induced pluripotent stem cell line
RT   (SMBCi009-A) from urine-derived cells of a Chinese familial
RT   hypercholesterolemia patient.";
RL   Stem Cell Res. 59:102624-102624(2022).