ID   AVP-Ser18del-iPSC
AC   CVCL_JJ78
SY   AVP-Ser18del-iPSCs
DR   Wikidata; Q54751922
RX   PubMed=28413003;
CC   From: Department of Paediatrics, Aarhus University Hospital; Aarhus; Denmark.
CC   Sequence variation: Mutation; HGNC; HGNC:894; AVP; Simple; p.Ser18del (c.52_54delTCC) (g.276_278delTCC); Zygosity=Heterozygous (PubMed=28413003).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129736; Autosomal dominant neurohypophyseal diabetes insipidus
DI   ORDO; Orphanet_30925; Hereditary central diabetes insipidus
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   42Y
CA   Induced pluripotent stem cell
DT   Created: 15-05-17; Last updated: 19-12-24; Version: 11
//
RX   PubMed=28413003; DOI=10.1016/j.scr.2016.12.021;
RA   Toustrup L.B., Zhou Y., Kvistgaard H., Gregersen N., Rittig S.,
RA   Aagaard L., Corydon T.J., Luo Y.-L., Christensen J.H.;
RT   "Induced pluripotent stem cells derived from a patient with autosomal
RT   dominant familial neurohypophyseal diabetes insipidus caused by a
RT   variant in the AVP gene.";
RL   Stem Cell Res. 19:37-42(2017).
//