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Cellosaurus NCKDi001-A (CVCL_A1WM)

[Text version]
Cell line name NCKDi001-A
Synonyms NCKD-iPS-Alport-COL4A5-001; NCKD-iPS-AS-COL4A5-001
Accession CVCL_A1WM
Resource Identification Initiative To cite this cell line use: NCKDi001-A (RRID:CVCL_A1WM)
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; 2207; COL4A5; Simple; p.Gly896Ala (c.2687G>C); Zygosity=Hemizygous (PubMed=33128955).
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 19Y
Category Induced pluripotent stem cell
Publications

PubMed=33128955; DOI=10.1016/j.scr.2020.102023
Wang G., Wu H.-D., Gao E.-Z., Zhang L., Chen L., Zhu Y.-Q., Zhang J., Liu Z.-H.
Generation of induced pluripotent stem cell line (NCKDi001-A) from a 19-year-old patient with a novel COL4A5 gene mutation in Alport syndrome.
Stem Cell Res. 49:102023-102023(2020)

Cross-references
Cell line databases/resources hPSCreg; NCKDi001-A
Encyclopedic resources Wikidata; Q105510327
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number5