ID   ADPKD#50B
AC   CVCL_A4QG
DR   SKIP; SKIP000918
DR   Wikidata; Q105506057
RX   PubMed=22142803;
CC   Sequence variation: Mutation; HGNC; HGNC:9008; PKD1; Simple; p.Trp3842Ter (c.11525G>A); ClinVar=VCV000805142; Zygosity=Heterozygous (PubMed=22142803).
CC   Derived from site: In situ; Skin, epidermis; UBERON=UBERON_0001003.
CC   Cell type: Keratinocyte; CL=CL_0000312.
DI   NCIt; C84578; Autosomal dominant polycystic kidney disease
DI   ORDO; Orphanet_730; Autosomal dominant polycystic kidney disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4QF ! ADPKD#10D
SX   Sex unspecified
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=22142803; DOI=10.1186/scrt89; PMCID=PMC3340557;
RA   Thatava T., Armstrong A.S., De Lamo J.G., Edukulla R., Khan Y.K.,
RA   Sakuma T., Ohmine S., Sundsbak J.L., Harris P.C., Kudva Y.C.,
RA   Ikeda Y.;
RT   "Successful disease-specific induced pluripotent stem cell generation
RT   from patients with kidney transplantation.";
RL   Stem Cell Res. Ther. 2:48.1-48.11(2011).
//