ID   CIBi009-A
AC   CVCL_A7JG
SY   iPSD0050; PBMC20191212-01 SeV C4
DR   hPSCreg; CIBi009-A
DR   Wikidata; Q107114676
RX   PubMed=33892292;
CC   From: Cell Inspire Biotechnology; Shenzhen; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 6547; LDLR; Simple; p.Leu414Arg (c.1241T>G); ClinVar=VCV000251747; Zygosity=Heterozygous (PubMed=33892292).
CC   Sequence variation: Mutation; HGNC; 603; APOB; Simple; p.Asp540Tyr (c.1618G>T); ClinVar=VCV000925431; Zygosity=Heterozygous (PubMed=33892292).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C176014; Hypercholesterolemia, familial, 2
DI   NCIt; C123416; Hyperlipoproteinemia, type IIa
DI   ORDO; Orphanet_391665; Homozygous familial hypercholesterolemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   31Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33892292; DOI=10.1016/j.scr.2021.102347;
RA   Ge W.-K., Song Y.-Z., Chu M., Liu Y.-Q., Yang B., Wang K.-J., Yu B.-R.,
RA   Song C.-Y., Wang Y., Yang J.-Y.;
RT   "Generation of a human iPSC line CIBi009-A from a patient with
RT   familial hypercholesterolemia carrying variants of LDLR c.T1241G and
RT   APOB c.G1618T.";
RL   Stem Cell Res. 53:102347-102347(2021).
//