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Cellosaurus AHQUi001-A-1 (CVCL_A1MV)

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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 site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6677; LPL; Simple_corrected; p.Cys310Arg (c.928T>C); ClinVar=VCV000226449; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (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
Xiao-Fang Sun, Xiang Zhou, Bing-Zi Dong, Chen Wang, Xin-Hua Xiao, Yan-Gang Wang;
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
Encyclopedic resources Wikidata; Q102113510
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number7