Cellosaurus logo
expasy logo

Cellosaurus NCKDi005-A (CVCL_B5IV)

[Text][XML][JSON]
Cell line name NCKDi005-A
Synonyms NCKD-iPS-AS-COL4A4-005
Accession CVCL_B5IV
Resource Identification Initiative To cite this cell line use: NCKDi005-A (RRID:CVCL_B5IV)
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:2206; COL4A4; Simple; p.Gly408Cysfs*29 (c.1221_1222insTGCAGGCATGATAGGACCCCCT); Zygosity=Homozygous (PubMed=34942480).
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 25Y
Category Induced pluripotent stem cell
Publications

PubMed=34942480; DOI=10.1016/j.scr.2021.102628
Gang Wang, Er-Zhi Gao, Hang-Di Wu, Li Zhang, Yu-Qing Zhu, Jin Zhang, Zhi-Hong Liu;
Establishment of the induced pluripotent stem cell line (NCKDi005-A) from a male patient with Alport syndrome carrying a homozygous frameshift mutation in the COL4A4 gene.
Stem Cell Res. 58:102628-102628(2022)

Cross-references
Cell line databases/resources hPSCreg; NCKDi005-A
Encyclopedic resources Wikidata; Q110433094
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5