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Cellosaurus CTGUi001-A (CVCL_C6P3)

[Text version]
Cell line name CTGUi001-A
Synonyms F01; FD01; FD-01
Accession CVCL_C6P3
Resource Identification Initiative To cite this cell line use: CTGUi001-A (RRID:CVCL_C6P3)
Comments From: China Three Gorges University; Yichang; China.
Population: Asian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4296; GLA; Simple; p.Cys52Ter (c.156C>A); Zygosity=Hemizygous (PubMed=36917862).
Disease Fabry disease (NCIt: C84701)
Fabry disease (ORDO: Orphanet_324)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 16Y
Category Induced pluripotent stem cell
Publications

PubMed=36917862; DOI=10.1016/j.scr.2023.103063
Qin Y., Zhan J.-Q., Ma C.-J., Cao C.-Y., Zhang Y., Min Y.-T., Lv Y.-F.
Generation and characterization of iPS cell line (CTGUi001-A) from skin fibroblasts of a patient with Fabry disease.
Stem Cell Res. 69:103063-103063(2023)

Cross-references
Cell line databases/resources hPSCreg; CTGUi001-A
Biological sample resources BioSamples; SAMEA111265587
Encyclopedic resources Wikidata; Q117704277
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number3