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Cellosaurus AHQUi001-A-1 (CVCL_A1MV)

[Text version]

Cell line name AHQUi001-A-1
Synonyms IPS35-2-R
Accession CVCL_A1MV
Resource Identification Initiative To cite this cell line use: AHQUi001-A-1 (RRID:CVCL_A1MV)
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_corrected; p.Cys310Arg (c.928T>C); ClinVar=VCV000226449; Zygosity=Heterozygous (PubMed=33592566).
Disease Hyperlipoproteinemia, type I (NCIt: C84771)
Familial lipoprotein lipase deficiency (ORDO: Orphanet_309015)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_YK97 (AHQUi001-A)
Sex of cell Male
Age at sampling 53Y
Category Induced pluripotent stem cell
Publications

PubMed=33592566; DOI=10.1016/j.scr.2021.102230
Sun X.-F., Zhou X., Dong B.-Z., Wang C., Xiao X.-H., Wang Y.-G.
Generation of a gene-corrected isogenic iPSC line (AHQUi001-A-1) from a patient with familial hypertriglyceridemia (FHTG) carrying a heterozygous p.C310R (c.928T>C) mutation in LPL gene using CRISPR/Cas9.
Stem Cell Res. 52:102230-102230(2021)

Cross-references
Cell line databases/resources hPSCreg; AHQUi001-A-1
Biological sample resources BioSamples; SAMEA7655488
Other Wikidata; Q102113510
Entry history
Entry creation29-Oct-2020
Last entry update20-May-2021
Version number3