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Cellosaurus FHUi003-A (CVCL_A9XT)

[Text version]
Cell line name FHUi003-A
Synonyms A1b2as1; FNDI-iPS-A1b; FNDI-A1b
Accession CVCL_A9XT
Resource Identification Initiative To cite this cell line use: FHUi003-A (RRID:CVCL_A9XT)
Comments From: Fujita Health University; Toyoake; Japan.
Population: Japanese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 894; AVP; Simple; p.Cys105Ser (c.314G>C); Zygosity=Heterozygous (PubMed=32927425).
Disease Autosomal dominant neurohypophyseal diabetes insipidus (NCIt: C129736)
Hereditary central diabetes insipidus (ORDO: Orphanet_30925)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A9XU ! FHUi003-B
Sex of cell Male
Age at sampling 71Y
Category Induced pluripotent stem cell
Publications

PubMed=32927425; DOI=10.1016/j.scr.2020.101960
Yoshida S., Okura H., Suga H., Soen M., Kawaguchi Y., Kurimoto J., Miyata T., Takagi H., Arima H., Fujikawa T., Otsuka F., Matsuyama A.
Generation of four induced pluripotent stem cell lines (FHUi003-A, FHUi003-B, FHUi004-A and FHUi004-B) from two affected individuals of a familial neurohypophyseal diabetes insipidus family.
Stem Cell Res. 48:101960-101960(2020)

Cross-references
Cell line databases/resources hPSCreg; FHUi003-A
Encyclopedic resources Wikidata; Q102113826
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number5