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Cellosaurus GWCMCi002-A (CVCL_A4VC)

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Cell line name GWCMCi002-A
Synonyms IPS79-1; iPS79
Accession CVCL_A4VC
Resource Identification Initiative To cite this cell line use: GWCMCi002-A (RRID:CVCL_A4VC)
Comments From: Guangzhou Women and Children's Medical Center; Guangzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2207; COL4A5; Simple; c.1517-1G>T; ClinVar=VCV000024421; Zygosity=Hemizygous; Note=Splice acceptor mutation (PubMed=34088015).
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 8Y
Category Induced pluripotent stem cell
Publications

PubMed=34088015; DOI=10.1016/j.scr.2021.102388
Xia Gao, Guan-Yu Li, Hui Deng, Wei-Dong Feng, Yue Li, Ming Liu, Ying-Jie Li;
Generation of an iPSC line (GWCMCi002-A) from an X-linked Alport syndrome patient with a hemizygous splicing mutation (NM_000495.4, c 1517-1 G > T) in the COL4A5 gene.
Stem Cell Res. 53:102388-102388(2021)

Cross-references
Cell line databases/resources hPSCreg; GWCMCi002-A
Biological sample resources BioSamples; SAMEA8050982
Encyclopedic resources Wikidata; Q107115207
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number5