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Cellosaurus SDUBMSi007-A (CVCL_A7GE)

[Text version]
Cell line name SDUBMSi007-A
Synonyms COL4A5-WX
Accession CVCL_A7GE
Resource Identification Initiative To cite this cell line use: SDUBMSi007-A (RRID:CVCL_A7GE)
Comments From: School of Basic Medical Sciences, Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2207; COL4A5; Simple; p.Arg266Ter (c.796C>T); ClinVar=VCV000024325; Zygosity=Hemizygous (PubMed=33878711).
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 21Y
Category Induced pluripotent stem cell
Publications

PubMed=33878711; DOI=10.1016/j.scr.2021.102343
Ma Y.-Y., Wang Z.-D., Gao M., Liu X.-L., Sun W.-J., Gong Y.-Q., Sun G.-P., Liu G.-Y.
Generation of two induced pluripotent stem cell lines from patients with X-linked Alport syndrome.
Stem Cell Res. 53:102343-102343(2021)

Cross-references
Cell line databases/resources hPSCreg; SDUBMSi007-A
Encyclopedic resources Wikidata; Q107116903
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4