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Cellosaurus SHCDNRi001-A (CVCL_ZA37)

[Text version]

Cell line name SHCDNRi001-A
Synonyms IPS-51
Accession CVCL_ZA37
Resource Identification Initiative To cite this cell line use: SHCDNRi001-A (RRID:CVCL_ZA37)
Comments From: Department of Nephrology and Rheumatology, Shanghai Children's Hospital; Shanghai; China.
Population: Chinese; Han.
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 2207; COL4A5; Simple; p.Gly409Ser (c.1225G>A); ClinVar=VCV000975073; Zygosity=Heterozygous (PubMed=32416580).
Disease Alport syndrome (NCIt: C34842)
Alport syndrome (ORDO: Orphanet_63)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 40Y
Category Induced pluripotent stem cell
Publications

PubMed=32416580; DOI=10.1016/j.scr.2020.101833
Sun L., Zhang J., Kuang X.-Y., Kang Y.-L., Wu Y., Huang W.-Y.
Generation of an induced pluripotent stem cell line (SHCDNRi001-A) from a patient with X-linked Alport syndrome carrying a heterozygous p.G409S (c.1225 G > A) mutation in the COL4A5 gene.
Stem Cell Res. 45:101833-101833(2020)

Cross-references
Cell line databases/resources hPSCreg; SHCDNRi001-A
SKIP; SKIP005799
Biological sample resources BioSamples; SAMEA6762569
Encyclopedic resources Wikidata; Q98132504
Entry history
Entry creation02-Jul-2020
Last entry update17-Mar-2022
Version number5