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Cellosaurus AVP-Ser18del-iPSC (CVCL_JJ78)

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Cell line name AVP-Ser18del-iPSC
Synonyms AVP-Ser18del-iPSCs
Accession CVCL_JJ78
Resource Identification Initiative To cite this cell line use: AVP-Ser18del-iPSC (RRID:CVCL_JJ78)
Comments From: Department of Paediatrics, Aarhus University Hospital; Aarhus; Denmark.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:894; AVP; Simple; p.Ser18del (c.52_54delTCC) (g.276_278delTCC); Zygosity=Heterozygous (PubMed=28413003).
Disease Autosomal dominant neurohypophyseal diabetes insipidus (NCIt: C129736)
Hereditary central diabetes insipidus (ORDO: Orphanet_30925)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 42Y
Category Induced pluripotent stem cell
Publications

PubMed=28413003; DOI=10.1016/j.scr.2016.12.021
Lise Bols Toustrup, Yan Zhou, Helene Kvistgaard, Niels Gregersen, Soren Rittig, Lars Aagaard, Thomas Juhl Corydon, Yong-Lun Luo, Jane H. Christensen;
Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene.
Stem Cell Res. 19:37-42(2017)

Cross-references
Encyclopedic resources Wikidata; Q54751922
Entry history
Entry creation15-May-2017
Last entry update19-Dec-2024
Version number11