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Cellosaurus AHQUi001-A (CVCL_YK97)

[Text version]

Cell line name AHQUi001-A
Synonyms IPS35-2
Accession CVCL_YK97
Resource Identification Initiative To cite this cell line use: AHQUi001-A (RRID:CVCL_YK97)
Comments From: Affiliated Hospital of Qingdao University; Qingdao; China.
Population: Chinese; Han.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 6677; LPL; Simple; p.Cys310Arg (c.928T>C); ClinVar=VCV000226449; Zygosity=Heterozygous (PubMed=32353702).
Disease Hyperlipoproteinemia, type I (NCIt: C84771)
Familial lipoprotein lipase deficiency (ORDO: Orphanet_309015)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_A1MV (AHQUi001-A-1)
Sex of cell Male
Age at sampling 53Y
Category Induced pluripotent stem cell
Publications

PubMed=32353702; DOI=10.1016/j.scr.2020.101802
Sun X.-F., Zhou X., Xiao X.-H., Chi J.-W., Dong B.-Z., Wang Y.-G.
Generation of the induced pluripotent stem cell(iPSC) line (AHQUi001-A) from a patient with familial hypertriglyceridemia (FHTG) carrying a heterozygous p.C310R (c.928 T > C) mutation in LPL gene.
Stem Cell Res. 45:101802-101802(2020)

Cross-references
Cell line databases/resources hPSCreg; AHQUi001-A
SKIP; SKIP005782
Biological sample resources BioSamples; SAMEA6516971
Encyclopedic resources Wikidata; Q93323833
Entry history
Entry creation19-Dec-2019
Last entry update20-May-2021
Version number5