Cellosaurus cell line iPS ARPKD 5 (CVCL

Cross-references
Cell line name	iPS ARPKD 5
Accession	CVCL_V453
Resource Identification Initiative	To cite this cell line use: iPS ARPKD 5 (RRID:CVCL_V453)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:9016; PKHD1; Simple; p.Thr36Met (c.107C>T); ClinVar=VCV000004108; Zygosity=Unspecified (PubMed=24009235). Mutation; HGNC; HGNC:9016; PKHD1; Simple; p.Trp2736Gly (c.8206T>G); ClinVar=VCV000496527; Zygosity=Unspecified (PubMed=24009235).
Disease	Autosomal recessive polycystic kidney disease (NCIt: C84579) Autosomal recessive polycystic kidney disease (ORDO: Orphanet_731)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_V447 (GM12607)
Sex of cell	Female
Age at sampling	6D
Category	Induced pluripotent stem cell
Publications	PubMed=24009235; DOI=10.1681/ASN.2012111089; PMCID=PMC3785271 Freedman B.S., Lam A.Q., Sundsbak J.L., Iatrino R., Su X.-F., Koon S.J., Wu M.-Q., Daheron L., Harris P.C., Zhou J., Bonventre J.V. Reduced ciliary polycystin-2 in induced pluripotent stem cells from polycystic kidney disease patients with PKD1 mutations. J. Am. Soc. Nephrol. 24:1571-1586(2013)
Encyclopedic resources	Wikidata; Q54898076
Entry history
Entry creation	16-Apr-2014
Last entry update	19-Dec-2024
Version number	13