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Cellosaurus PLAFMCi002-A (CVCL_A1MN)

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Cell line name PLAFMCi002-A
Accession CVCL_A1MN
Resource Identification Initiative To cite this cell line use: PLAFMCi002-A (RRID:CVCL_A1MN)
Comments From: Chinese PLA General Hospital; Beijing; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9008; PKD1; Simple; p.Ser843Pro (c.2527T>C); ClinVar=VCV000997278; Zygosity=Heterozygous (PubMed=33068887).
  • Mutation; HGNC; HGNC:9008; PKD1; Simple; p.Met3091Arg (c.9272T>G); Zygosity=Heterozygous (PubMed=33068887).
Disease Autosomal dominant polycystic kidney disease (NCIt: C84578)
Autosomal dominant polycystic kidney disease (ORDO: Orphanet_730)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 32Y
Category Induced pluripotent stem cell
Publications

PubMed=33068887; DOI=10.1016/j.scr.2020.102039
Tao Wang, Jian Li, Yun-Ming Xiao, Bo Fu, Peng Wang, Xue-Yuan Bai, Guang-Yan Cai, Xiang-Mei Chen, Qing-Gang Li;
Generation of induced pluripotent stem cell PLAFMCi002-A derived from peripheral blood mononuclear cells of polycystic kidney disease patient with PKD1 mutation.
Stem Cell Res. 49:102039-102039(2020)

Cross-references
Encyclopedic resources Wikidata; Q102114780
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number7