ID   PLAFMCi002-A
AC   CVCL_A1MN
DR   Wikidata; Q102114780
RX   PubMed=33068887;
CC   From: Chinese PLA General Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:9008; PKD1; Simple; p.Ser843Pro (c.2527T>C); ClinVar=VCV000997278; Zygosity=Heterozygous (PubMed=33068887).
CC   Sequence variation: Mutation; HGNC; HGNC:9008; PKD1; Simple; p.Met3091Arg (c.9272T>G); Zygosity=Heterozygous (PubMed=33068887).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84578; Autosomal dominant polycystic kidney disease
DI   ORDO; Orphanet_730; Autosomal dominant polycystic kidney disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   32Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 7
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RX   PubMed=33068887; DOI=10.1016/j.scr.2020.102039;
RA   Wang T., Li J., Xiao Y.-M., Fu B., Wang P., Bai X.-Y., Cai G.-Y.,
RA   Chen X.-M., Li Q.-G.;
RT   "Generation of induced pluripotent stem cell PLAFMCi002-A derived from
RT   peripheral blood mononuclear cells of polycystic kidney disease
RT   patient with PKD1 mutation.";
RL   Stem Cell Res. 49:102039-102039(2020).
//