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Cellosaurus NMSUNLi001-A (CVCL_QY85)

[Text version]
Cell line name NMSUNLi001-A
Synonyms iUC-DAND5_455/10
Accession CVCL_QY85
Resource Identification Initiative To cite this cell line use: NMSUNLi001-A (RRID:CVCL_QY85)
Comments From: CEDOC, NOVA Medical School, Universidade Nova De Lisboa; Lisbon; Portugal.
Population: Caucasian.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Cell type: Epithelial cell; CL=CL_0000066.
Sequence variations
  • Mutation; HGNC; 26780; DAND5; Simple; p.Arg152His (c.455G>A); Zygosity=Heterozygous (PubMed=29136563).
Disease Congenital heart disease (NCIt: C95834)
Rare syndrome with cardiac malformations (ORDO: Orphanet_156532)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_YM55 (NMSUNLi001-A-1)
Sex of cell Male
Age at sampling 7Y
Category Induced pluripotent stem cell
Publications

PubMed=29136563; DOI=10.1016/j.scr.2017.10.019
Cristo F., Inacio J.M., Rosas G., Carreira I.M., Melo J.B., de Almeida L.P., Mendes P., Martins D.S., Maio J., Anjos R., Belo J.A.
Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration.
Stem Cell Res. 25:152-156(2017)

PubMed=31869685; DOI=10.1016/j.scr.2019.101677
Inacio J.M., Almeida M., Cristo F., Belo J.A.
Generation of a gene-corrected human induced pluripotent stem cell line derived from a patient with laterality defects and congenital heart anomalies with a c.455G > A alteration in DAND5.
Stem Cell Res. 42:101677-101677(2020)

Cross-references
Cell line databases/resources hPSCreg; NMSUNLi001-A
Encyclopedic resources Wikidata; Q54930844
Entry history
Entry creation05-Mar-2018
Last entry update29-Jun-2023
Version number7