ID   FHUi003-B
AC   CVCL_A9XU
SY   A11b; FNDI-iPS-A11b; FNDI-A11b
DR   hPSCreg; FHUi003-B
DR   Wikidata; Q102113828
RX   PubMed=32927425;
CC   From: Fujita Health University; Toyoake; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 894; AVP; Simple; p.Cys105Ser (c.314G>C); Zygosity=Heterozygous (PubMed=32927425).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129736; Autosomal dominant neurohypophyseal diabetes insipidus
DI   ORDO; Orphanet_30925; Hereditary central diabetes insipidus
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A9XT ! FHUi003-A
SX   Male
AG   71Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 5
//
RX   PubMed=32927425; DOI=10.1016/j.scr.2020.101960;
RA   Yoshida S., Okura H., Suga H., Soen M., Kawaguchi Y., Kurimoto J.,
RA   Miyata T., Takagi H., Arima H., Fujikawa T., Otsuka F., Matsuyama A.;
RT   "Generation of four induced pluripotent stem cell lines (FHUi003-A,
RT   FHUi003-B, FHUi004-A and FHUi004-B) from two affected individuals of a
RT   familial neurohypophyseal diabetes insipidus family.";
RL   Stem Cell Res. 48:101960-101960(2020).
//