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Cellosaurus NMSUNLi001-A-1 (CVCL_YM55)

[Text version]
Cell line name NMSUNLi001-A-1
Synonyms NMSUNLi003; iUC-DAND5_455/10C
Accession CVCL_YM55
Resource Identification Initiative To cite this cell line use: NMSUNLi001-A-1 (RRID:CVCL_YM55)
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 of kidney; CL=CL_0002518.
Sequence variations
  • Mutation; HGNC; HGNC:26780; DAND5; Simple_corrected; p.Arg152His (c.455G>A); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=31869685).
Disease Congenital heart disease (NCIt: C95834)
Rare syndrome with cardiac malformations (ORDO: Orphanet_156532)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_QY85 (NMSUNLi001-A)
Sex of cell Male
Age at sampling 7Y
Category Induced pluripotent stem cell
Publications

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
Encyclopedic resources Wikidata; Q98127947
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number8