ID   iPS ARPKD 5
AC   CVCL_V453
DR   Wikidata; Q54898076
RX   PubMed=24009235;
CC   Sequence variation: Mutation; HGNC; HGNC:9016; PKHD1; Simple; p.Thr36Met (c.107C>T); ClinVar=VCV000004108; Zygosity=Unspecified (PubMed=24009235).
CC   Sequence variation: Mutation; HGNC; HGNC:9016; PKHD1; Simple; p.Trp2736Gly (c.8206T>G); ClinVar=VCV000496527; Zygosity=Unspecified (PubMed=24009235).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84579; Autosomal recessive polycystic kidney disease
DI   ORDO; Orphanet_731; Autosomal recessive polycystic kidney disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_V447 ! GM12607
SX   Female
AG   6D
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 13
//
RX   PubMed=24009235; DOI=10.1681/ASN.2012111089; PMCID=PMC3785271;
RA   Freedman B.S., Lam A.Q., Sundsbak J.L., Iatrino R., Su X.-F., Koon S.J.,
RA   Wu M.-Q., Daheron L., Harris P.C., Zhou J., Bonventre J.V.;
RT   "Reduced ciliary polycystin-2 in induced pluripotent stem cells from
RT   polycystic kidney disease patients with PKD1 mutations.";
RL   J. Am. Soc. Nephrol. 24:1571-1586(2013).
//