Cellosaurus cell line GZHMCi002-A (CVCL

Cross-references
Cell line name	GZHMCi002-A
Synonyms	APOB-iPSC
Accession	CVCL_A1WB
Resource Identification Initiative	To cite this cell line use: GZHMCi002-A (RRID:CVCL_A1WB)
Comments	From: The Third Affiliated Hospital of Guangzhou Medical College; Guangzhou; China. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:603; APOB; Simple; p.Arg3527Trp (c.10579C>T); ClinVar=VCV000040223; Zygosity=Heterozygous (PubMed=33128957).
Disease	Hypercholesterolemia, familial, 2 (NCIt: C176014) Homozygous familial hypercholesterolemia (ORDO: Orphanet_391665)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=33128957; DOI=10.1016/j.scr.2020.102054 Song B., Liu N.-Q., Cheng Y., Lu D., Chen D.-Y., Xie Y.-J., He L.-N., Yang Y.-H., Guan H.-M., Sun X.-F. Generation of induced pluripotent stem cell GZHMCi002-A from peripheral blood mononuclear cells with APOB mutation. Stem Cell Res. 49:102054-102054(2020)
Cell line databases/resources	hPSCreg; GZHMCi002-A
Encyclopedic resources	Wikidata; Q105507498
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	5