ID   NMSUNLi001-A
AC   CVCL_QY85
SY   iUC-DAND5_455/10
DR   hPSCreg; NMSUNLi001-A
DR   Wikidata; Q54930844
RX   PubMed=29136563;
RX   PubMed=31869685;
CC   From: CEDOC, NOVA Medical School, Universidade Nova De Lisboa; Lisbon; Portugal.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 26780; DAND5; Simple; p.Arg152His (c.455G>A); Zygosity=Heterozygous (PubMed=29136563).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
CC   Cell type: Epithelial cell; CL=CL_0000066.
DI   NCIt; C95834; Congenital heart disease
DI   ORDO; Orphanet_156532; Rare syndrome with cardiac malformations
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 7
//
RX   PubMed=29136563; DOI=10.1016/j.scr.2017.10.019;
RA   Cristo F., Inacio J.M., Rosas G., Carreira I.M., Melo J.B.,
RA   de Almeida L.P., Mendes P., Martins D.S., Maio J., Anjos R.,
RA   Belo J.A.;
RT   "Generation of human iPSC line from a patient with laterality defects
RT   and associated congenital heart anomalies carrying a DAND5 missense
RT   alteration.";
RL   Stem Cell Res. 25:152-156(2017).
//
RX   PubMed=31869685; DOI=10.1016/j.scr.2019.101677;
RA   Inacio J.M., Almeida M., Cristo F., Belo J.A.;
RT   "Generation of a gene-corrected human induced pluripotent stem cell
RT   line derived from a patient with laterality defects and congenital
RT   heart anomalies with a c.455G > A alteration in DAND5.";
RL   Stem Cell Res. 42:101677-101677(2020).
//