ID   GZHMCi002-A
AC   CVCL_A1WB
SY   APOB-iPSC
DR   hPSCreg; GZHMCi002-A
DR   Wikidata; Q105507498
RX   PubMed=33128957;
CC   From: The Third Affiliated Hospital of Guangzhou Medical College; Guangzhou; China.
CC   Sequence variation: Mutation; HGNC; 603; APOB; Simple; p.Arg3527Trp (c.10579C>T); ClinVar=VCV000040223; Zygosity=Heterozygous (PubMed=33128957).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C176014; Hypercholesterolemia, familial, 2
DI   ORDO; Orphanet_391665; Homozygous familial hypercholesterolemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 4
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RX   PubMed=33128957; DOI=10.1016/j.scr.2020.102054;
RA   Song B., Liu N.-Q., Cheng Y., Lu D., Chen D.-Y., Xie Y.-J., He L.-N.,
RA   Yang Y.-H., Guan H.-M., Sun X.-F.;
RT   "Generation of induced pluripotent stem cell GZHMCi002-A from
RT   peripheral blood mononuclear cells with APOB mutation.";
RL   Stem Cell Res. 49:102054-102054(2020).
//