Cellosaurus logo
expasy logo

Cellosaurus NCKDi004-A (CVCL_B5IU)

[Text][XML][JSON]
Cell line name NCKDi004-A
Synonyms NCKD-iPS-AS-COL4A3-004
Accession CVCL_B5IU
Resource Identification Initiative To cite this cell line use: NCKDi004-A (RRID:CVCL_B5IU)
Comments From: National Center of Kidney Diseases; Nanjing; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2204; COL4A3; Simple; p.Met1Ile (c.3G>A); Zygosity=Homozygous (PubMed=34626894).
Disease Alport syndrome (NCIt: C34842)
Alport syndrome (ORDO: Orphanet_63)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 17Y
Category Induced pluripotent stem cell
Publications

PubMed=34626894; DOI=10.1016/j.scr.2021.102557
Hang-Di Wu, Gang Wang, Er-Zhi Gao, Li Zhang, Yu-Qing Zhu, Jin Zhang, Zhi-Hong Liu;
Generation of the induced pluripotent stem cell line (NCKDi004-A) from a 17-year-old patient with Alport syndrome carrying a homozygous mutation in COL4A3 gene.
Stem Cell Res. 56:102557-102557(2021)

Cross-references
Cell line databases/resources hPSCreg; NCKDi004-A
Encyclopedic resources Wikidata; Q110433093
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5